ClinVar Genomic variation as it relates to human health
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
Variation ID: 1687 Accession: VCV000001687.57
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19p13.13 19: 12649932 (GRCh38) [ NCBI UCSC ] 19: 12760746 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 12, 2024 Apr 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000528.4:c.2248C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000519.2:p.Arg750Trp missense NM_001173498.2:c.2245C>T NP_001166969.1:p.Arg749Trp missense NC_000019.10:g.12649932G>A NC_000019.9:g.12760746G>A NG_008318.1:g.21846C>T O00754:p.Arg750Trp - Protein change
- R750W, R749W
- Other names
- -
- Canonical SPDI
- NC_000019.10:12649931:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MAN2B1 | - | - |
GRCh38 GRCh37 |
1535 | 1705 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (17) |
criteria provided, multiple submitters, no conflicts
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Jan 16, 2024 | RCV000001755.37 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 7, 2014 | RCV000622985.3 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Apr 1, 2024 | RCV001091771.21 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 16, 2017)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914830.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The MAN2B1 c.2248C>T (p.Arg750Trp) missense variant is one of the most frequently reported variants among individuals with alpha-mannosidosis from European populations and generally accounts for … (more)
The MAN2B1 c.2248C>T (p.Arg750Trp) missense variant is one of the most frequently reported variants among individuals with alpha-mannosidosis from European populations and generally accounts for more than 27% of all disease alleles in studied cohorts (Malm et al. 2001; Riise Stensland et al. 2012; Borgwardt et al. 2015). Across a selection of the available literature, the p.Arg750Trp variant has been identified in at least 50 individuals with alpha-mannosidosis, including 22 individuals in a homozygous state and 28 individuals in a compound heterozygous state (Gotoda et al. 1998; Berg et al. 1999; Riise Stensland et al. 2012; Borgwardt et al. 2015). The p.Arg750Trp variant was absent from at least 236 control alleles but is reported at a frequency of 0.001361 in the European (Finnish) population of the Exome Aggregation Consortium. The activity of alpha mannosidase in fibroblasts of two unrelated patients has been reported to demonstrate two percent activity of normal (Gotoda et al. 1998). Nearly absent enzyme activity due to misfolded protein arrested in the endoplasmic reticulum as inactive single-chain forms has been demonstrated in COS1 and COS7 cells transfected with the p.Arg750Trp variant (Gotoda et al. 1998; Hansen et al. 2004). The p.Arg750Trp variant has been used as a negative control for functional analysis of novel MAN2B1 variants (Borgwardt et al. 2015). Based on the collective evidence, the p.Arg750Trp variant is classified as pathogenic for alpha-mannosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001163443.1
First in ClinVar: Feb 28, 2020 Last updated: Feb 28, 2020 |
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Pathogenic
(Dec 04, 2019)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193961.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_000528.3(MAN2B1):c.2248C>T(R750W) is classified as pathogenic in the context of alpha-mannosidosis. Sources cited for classification include the following: PMID 22161967, 9915946, 23613340, 9758606 and 15035660. Classification … (more)
NM_000528.3(MAN2B1):c.2248C>T(R750W) is classified as pathogenic in the context of alpha-mannosidosis. Sources cited for classification include the following: PMID 22161967, 9915946, 23613340, 9758606 and 15035660. Classification of NM_000528.3(MAN2B1):c.2248C>T(R750W) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446925.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Hearing impairment (present) , Cerebellar ataxia (present)
Sex: male
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Pathogenic
(May 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001653107.1
First in ClinVar: May 29, 2021 Last updated: May 29, 2021 |
Comment:
The p.Arg750Trp variant in MAN2B1 has been reported in the homozygous or compound heterozygous state in >50 individuals with alpha-mannosidosis and segregated with disease in … (more)
The p.Arg750Trp variant in MAN2B1 has been reported in the homozygous or compound heterozygous state in >50 individuals with alpha-mannosidosis and segregated with disease in at least 5 affected individuals from 5 families (Berg 1999 PMID: 9915946, Lehalle 2019 PMID: 31241255, Gotoda 1998 PMID: 9758606, Riise Stensland 2012 PMID: 22161967, Gotoda 1998 PMID: 9758606). It has also been identified in 0.12% (29/25036) of Finnish chromosomes and 0.04% (48/128844) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This frequency is low enough to be consistent with a recessive carrier frequency. The p.Arg750Trp variant has also been reported in ClinVar (Variation ID 1687). Computational prediction tools and conservation analyses are consistent with pathogenicity. In vitro functional studies support that this variant impacts protein function (Hansen 2004 PMID: 15035660, Khan 2009 PMID: 19958498). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive alpha-mannosidosis. ACMG/AMP Criteria applied: PM3_VeryStrong, PP1_Strong, PP3, PS3_Supporting. (less)
Number of individuals with the variant: 2
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Pathogenic
(Jun 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002581004.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM3_STR, PS3_MOD, PS4_MOD, PM2_SUP, PP1, PP3
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Number of individuals with the variant: 3
Sex: male
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Pathogenic
(Feb 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767249.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with types I and II alpha-mannosidosis (MIM#248500). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to tryptophan. (I) 0252 - This variant is homozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2: 83 heterozygotes, 0 homozygotes). (SP) 0309 - Multiple alternative amino acid changes at the same position have been observed in gnomAD (v3) (highest allele count: 6 heterozygotes, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated glycosyl hydrolases family 38 C-terminal domain (DECIPHER). (I) 0801 - This variant has very strong previous evidence of pathogenicity in unrelated individuals. It is one of the most common variants reported in individuals with alpha-mannosidosis (ClinVar, PMID: 26048034). (SP) 1209 - This variant has been shown to be both maternally and paternally inherited (biallelic) (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(May 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV004237920.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000953586.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 750 of the MAN2B1 protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 750 of the MAN2B1 protein (p.Arg750Trp). This variant is present in population databases (rs80338680, gnomAD 0.1%). This missense change has been observed in individuals with MAN2B1-related conditions (PMID: 9758606, 9915946, 22161967). ClinVar contains an entry for this variant (Variation ID: 1687). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MAN2B1 protein function. Experimental studies have shown that this missense change affects MAN2B1 function (PMID: 9758606, 15035660). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247979.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Comment:
MAN2B1: PM3:Very Strong, PM2, PP4:Moderate, PS3:Supporting
Number of individuals with the variant: 7
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Pathogenic
(May 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697259.1
First in ClinVar: Aug 27, 2017 Last updated: Aug 27, 2017 |
Comment:
Variant summary: The MAN2B1 c.2248C>T (p.Arg750Trp) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant … (more)
Variant summary: The MAN2B1 c.2248C>T (p.Arg750Trp) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 28/121552 control chromosomes at a frequency of 0.0002304, which does not exceed the estimated maximal expected allele frequency of a pathogenic MAN2B1 variant (0.0015811). The variant has been reported in numerous affected individuals in the literature, both in the homozgyous and compound heterozygous state. Additionally, a functional study showed that the variant protein was misfolded and arrested in the ER as inactive single-chain form, and patients and transfected cell lines both had almost no detectable enzyme activity (Gotoda_1998, Hansen_2004). Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 30, 2019)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429406.1
First in ClinVar: Aug 15, 2020 Last updated: Aug 15, 2020 |
Comment:
This variant was identified as homozygous
Number of individuals with the variant: 1
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Pathogenic
(Sep 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002014154.1
First in ClinVar: Nov 11, 2021 Last updated: Nov 11, 2021 |
|
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Pathogenic
(Aug 25, 2021)
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criteria provided, single submitter
Method: clinical testing
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Deficiency of alpha-mannosidase
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002795772.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
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Pathogenic
(Sep 07, 2014)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV000741126.3
First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023 |
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Macrocephalus (present) , Cerebellar atrophy (present) , Progressive cerebellar ataxia (present) , Global developmental delay (present) , Sensorineural hearing loss (present) , Dysmetria (present) , … (more)
Macrocephalus (present) , Cerebellar atrophy (present) , Progressive cerebellar ataxia (present) , Global developmental delay (present) , Sensorineural hearing loss (present) , Dysmetria (present) , Broad-based gait (present) , Intellectual disability (present) (less)
Sex: male
Ethnicity/Population group: Caucasian
Observation 2:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Caucasian
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Pathogenic
(Jan 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001782377.3
First in ClinVar: Aug 14, 2021 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate that R750W impairs enzyme activity and is damaging to protein function in vitro (Gotoda et al., 1998; Hansen et al., 2004); … (more)
Published functional studies demonstrate that R750W impairs enzyme activity and is damaging to protein function in vitro (Gotoda et al., 1998; Hansen et al., 2004); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19958498, 18651971, 16919251, 15035660, 9758606, 26048034, 9915946, 34426522, 31589614, 31241255, 30548430, 31980526, 22161967) (less)
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009122.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Nov 29, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Deficiency of alpha-mannosidase
Affected status: yes
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV004244519.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
PS3, PM2, PM3_Very Strong, PP3
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Pathogenic
(Mar 01, 2012)
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no assertion criteria provided
Method: literature only
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ALPHA-MANNOSIDOSIS
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000021911.4
First in ClinVar: Apr 04, 2013 Last updated: Aug 27, 2017 |
Comment on evidence:
For discussion of the arg750-to-trp (R750W) mutation in the MAN2B1 gene that was found in compound heterozygous state in a patient with alpha-mannosidosis (MANSA; 248500) … (more)
For discussion of the arg750-to-trp (R750W) mutation in the MAN2B1 gene that was found in compound heterozygous state in a patient with alpha-mannosidosis (MANSA; 248500) by Gotoda et al. (1998), see 609458.0003. Berg et al. (1999) identified the arg750-to-trp (R750W) mutation in 13 patients with alpha-mannosidosis from different European countries. R750W accounted for 21% of disease alleles. Riise Stensland et al. (2012) identified the R750W mutation in 50 of 130 unrelated patients with alpha-mannosidosis from 30 countries. It was the most common mutation, accounting for 27.3% of disease alleles. Haplotype analysis indicated at least 4 independent events causing R750W, with 1 haplotype accounting for 95% of the alleles. Population-based analysis suggested that the mutant allele arose in eastern Europe. The mutation was found in patients with mild, moderate, and severe disease. (less)
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Uncertain significance
(Jun 07, 2012)
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no assertion criteria provided
Method: literature only
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Deficiency of alpha-mannosidase
Affected status: yes
Allele origin:
germline
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000243990.1
First in ClinVar: Feb 02, 2016 Last updated: Feb 02, 2016 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Alpha-mannosidosis
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001454352.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
|
Deficiency of alpha-mannosidase
Affected status: not provided
Allele origin:
unknown
|
GeneReviews
Accession: SCV000040754.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. | Lehalle D | American journal of medical genetics. Part A | 2019 | PMID: 31241255 |
Clinical implementation of gene panel testing for lysosomal storage diseases. | Gheldof A | Molecular genetics & genomic medicine | 2019 | PMID: 30548430 |
Alpha-Mannosidosis. | Adam MP | - | 2019 | PMID: 20301570 |
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. | Borgwardt L | Orphanet journal of rare diseases | 2015 | PMID: 26048034 |
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis. | Danielsen ER | JIMD reports | 2013 | PMID: 23613340 |
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. | Riise Stensland HM | Human mutation | 2012 | PMID: 22161967 |
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. | Khan JM | BMC genomics | 2009 | PMID: 19958498 |
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. | Hansen G | The Biochemical journal | 2004 | PMID: 15035660 |
Spectrum of mutations in alpha-mannosidosis. | Berg T | American journal of human genetics | 1999 | PMID: 9915946 |
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. | Gotoda Y | American journal of human genetics | 1998 | PMID: 9758606 |
http://web.expasy.org/variant_pages/VAR_003347.html | - | - | - | - |
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Text-mined citations for rs80338680 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.