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NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) AND Mucopolysaccharidosis, MPS-IV-B

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 2, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000984003.1

Allele description [Variation Report for NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)]

NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
HGVS:
  • NC_000003.12:g.33065551A>C
  • NG_009005.1:g.36652T>G
  • NM_000404.4:c.464T>GMANE SELECT
  • NM_001079811.3:c.374T>G
  • NM_001135602.3:c.252T>G
  • NM_001317040.2:c.608T>G
  • NM_001393580.1:c.464T>G
  • NP_000395.3:p.Leu155Arg
  • NP_001073279.2:p.Leu125Arg
  • NP_001129074.2:p.Pro84=
  • NP_001303969.2:p.Leu203Arg
  • NP_001380509.1:p.Leu155Arg
  • NC_000003.11:g.33107043A>C
  • NM_000404.2:c.464T>G
Protein change:
L125R
Links:
dbSNP: rs376710410
NCBI 1000 Genomes Browser:
rs376710410
Molecular consequence:
  • NM_000404.4:c.464T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.374T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.608T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.464T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.252T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-IV-B (MPS4B)
Synonyms:
MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790063Counsyl
no assertion criteria provided
Likely pathogenic
(Mar 2, 2017) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB.

Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.

PubMed [citation]
PMID:
25557439
PMCID:
PMC4386860

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E.

Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516.

PubMed [citation]
PMID:
21520340
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000790063.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024