ClinVar Genomic variation as it relates to human health
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
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
-
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
Variation ID: 95187 Accession: VCV000095187.48
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: Xq28 X: 154030639 (GRCh38) [ NCBI UCSC ] X: 153296090 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 22, 2015 Apr 20, 2024 May 10, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001110792.2:c.1225G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001104262.1:p.Glu409Lys missense NM_004992.4:c.1189G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004983.1:p.Glu397Lys missense NM_001316337.2:c.910G>A NP_001303266.1:p.Glu304Lys missense NM_001369391.2:c.910G>A NP_001356320.1:p.Glu304Lys missense NM_001369392.2:c.910G>A NP_001356321.1:p.Glu304Lys missense NM_001369393.2:c.910G>A NP_001356322.1:p.Glu304Lys missense NM_001369394.2:c.910G>A NP_001356323.1:p.Glu304Lys missense NM_001386137.1:c.520G>A NP_001373066.1:p.Glu174Lys missense NM_001386138.1:c.520G>A NP_001373067.1:p.Glu174Lys missense NM_001386139.1:c.520G>A NP_001373068.1:p.Glu174Lys missense NC_000023.11:g.154030639C>T NC_000023.10:g.153296090C>T NG_007107.3:g.111465G>A LRG_764:g.111465G>A LRG_764t1:c.1225G>A LRG_764p1:p.Glu409Lys LRG_764t2:c.1189G>A LRG_764p2:p.Glu397Lys P51608:p.Glu397Lys AJ132917.1:c.1189G>A - Protein change
- E397K, E409K, E304K, E174K
- Other names
- p.E397K:GAG>AAG
- NM_001110792.2(MECP2):c.1225G>A
- p.Glu409Lys
- Canonical SPDI
- NC_000023.11:154030638:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
0.00159 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00146
1000 Genomes Project 0.00159
Exome Aggregation Consortium (ExAC) 0.00138
The Genome Aggregation Database (gnomAD), exomes 0.00223
Trans-Omics for Precision Medicine (TOPMed) 0.00288
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00295
The Genome Aggregation Database (gnomAD) 0.00308
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 | ||
---|---|---|---|---|---|---|
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. |
|||
MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1824 | 2145 |
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. |
---|---|---|---|---|
Benign/Likely benign (9) |
criteria provided, multiple submitters, no conflicts
|
Apr 3, 2020 | RCV000081194.34 | |
Benign (4) |
reviewed by expert panel
|
May 10, 2022 | RCV000202529.12 | |
Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jun 1, 2017 | RCV000224642.27 | |
Benign (1) |
criteria provided, single submitter
|
Jan 29, 2024 | RCV001081987.15 | |
Benign (1) |
criteria provided, single submitter
|
Aug 1, 2014 | RCV000716944.9 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 26, 2022 | RCV002498425.8 |
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. |
|
---|---|---|---|---|---|
Benign
(May 10, 2022)
|
reviewed by expert panel
Method: curation
|
Rett syndrome
(X-linked inheritance)
Affected status: unknown
Allele origin:
germline
|
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
Accession: SCV002540719.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
Comment:
The allele frequency of the p.Glu397Lys variant in MECP2 (NM_004992) is 0.393% in European (Non-Finnish) sub population in gnomAD, which is high enough to be … (more)
The allele frequency of the p.Glu397Lys variant in MECP2 (NM_004992) is 0.393% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as Benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Glu397Lys variant is observed in at least 2 unaffected individuals (PMID 10577905,12384770, RettBASE) (BS2). In summary, the p.Glu397Lys variant in MECP2 is classified as Benign based on the ACMG/AMP criteria applied (BA1, BS2). (less)
|
|
Likely Benign
(Nov 26, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000280649.1
First in ClinVar: Jun 08, 2016 Last updated: Jun 08, 2016 |
Comment:
Converted during submission to Likely benign.
|
|
Likely benign
(Jun 22, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000247940.2
First in ClinVar: Oct 05, 2015 Last updated: Nov 10, 2017 |
|
|
Benign
(Jul 15, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000170232.11
First in ClinVar: Jun 23, 2014 Last updated: Nov 10, 2017 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Benign
(Dec 18, 2012)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000113102.8
First in ClinVar: Jan 17, 2014 Last updated: May 03, 2018 |
Number of individuals with the variant: 4
Sex: mixed
|
|
Benign
(Aug 01, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
History of neurodevelopmental disorder
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000847789.3
First in ClinVar: Nov 08, 2018 Last updated: Nov 08, 2018 |
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
|
|
Benign
(Apr 03, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics Inc
Accession: SCV001476542.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
|
|
Likely benign
(Jan 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002807850.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Benign
(Aug 14, 2023)
|
criteria provided, single submitter
Method: curation
|
Rett syndrome
(X-linked inheritance)
Affected status: unknown
Allele origin:
germline
|
Centre for Population Genomics, CPG
Accession: SCV004098724.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel … (more)
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). (less)
|
|
Benign
(Jan 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Severe neonatal-onset encephalopathy with microcephaly
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000556742.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
|
|
Benign
(Mar 19, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847542.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Glu397Lys variant in MECP2 is classified as a benign, because It has been has been identified in 0.39% (328/84800) of European chromosomes by the … (more)
The p.Glu397Lys variant in MECP2 is classified as a benign, because It has been has been identified in 0.39% (328/84800) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP), including 131 hemizygous individuals. While it has been reported in individuals with Rett syndrome and has also been reported in ClinVar (Variant ID 95187). However, in one family a second causative variant was identified in a female proband with Rett, while her her unaffected sister and their hemizygous father also carried the p.Glu397Lys variant (Wan 1999). Computational prediction tools and conservation analysis suggest that the p.Glu397Lys variant may not impact the protein. ACMG/AMP Criteria applied: BS1; BP4_Strong; BP2. (less)
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001142081.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
|
Likely benign
(Jun 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000609420.25
First in ClinVar: Oct 30, 2017 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
|
|
Benign
(Dec 05, 2013)
|
no assertion criteria provided
Method: curation
|
Not specified
Affected status: not provided
Allele origin:
paternal,
unknown,
maternal,
germline
|
RettBASE
Accession: SCV000187932.2
First in ClinVar: Aug 15, 2014 Last updated: Apr 22, 2015 |
Observation 1:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Not Rett synd. - unaffected family member
Observation 2:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 3:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 4:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not stated
Comment on evidence:
Rett syndrome - not certain
Observation 5:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not stated
Comment on evidence:
Rett syndrome - not certain
Observation 6:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 7:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 8:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Rett syndrome - not certain
Observation 9:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 10:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 11:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 12:
Number of individuals with the variant: 1
Tissue: Blood
Comment on evidence:
Not Rett synd. - Non Rett syndrome control
Observation 13:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 14:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: Blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 15:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 16:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 17:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 18:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphoblastoid cell lines
Comment on evidence:
Not Rett synd. - unaffected family member
Observation 19:
Number of individuals with the variant: 1
Sex: male
Tissue: Blood or skin
Comment on evidence:
Not known
Observation 20:
Number of individuals with the variant: 1
Sex: male
Tissue: Blood
Comment on evidence:
Not known
Observation 21:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 22:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: blood
Comment on evidence:
Not Rett synd. - Sporadic mental retardation
Observation 23:
Number of individuals with the variant: 1
Tissue: blood, lymphoblastoid cell lin
Comment on evidence:
Not Rett synd. - autism spectrum disorder
Observation 24:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 25:
Number of individuals with the variant: 1
Family history: No
Tissue: not stated
Comment on evidence:
Not Rett synd. - normal control
Observation 26:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 27:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Not Rett synd. - sporadic mental retardation
Observation 28:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: Not known
Comment on evidence:
Not Rett synd. - Sporadic mental retardation
Observation 29:
Number of individuals with the variant: 1
Tissue: blood, lymphoblastoid cell lin
Comment on evidence:
Not Rett synd. - schizophrenia
Observation 30:
Number of individuals with the variant: 1
Tissue: blood, lymphoblastoid cell lin
Comment on evidence:
Not Rett synd. - schizophrenia
Observation 31:
Number of individuals with the variant: 1
Sex: female
Tissue: Not Known
Comment on evidence:
Not known
Observation 32:
Number of individuals with the variant: 1
Sex: female
Tissue: Not Known
Comment on evidence:
Not known
Observation 33:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Not Rett synd. - Sporadic mental retardation
Observation 34:
Number of individuals with the variant: 1
Sex: male
Tissue: not known
Comment on evidence:
Not Rett synd. - mental retardation
Observation 35:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Not Rett synd. - non-Rett syndrome control
Observation 36:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Not Rett synd. - non-specfic mental retardation
Observation 37:
Number of individuals with the variant: 1
Tissue: blood, lymphoblastoid cell lin
Comment on evidence:
Not Rett synd. - normal control
Observation 38:
Number of individuals with the variant: 1
Family history: No
Sex: male
Tissue: blood
Comment on evidence:
Not Rett synd. - Unaffected family member
Observation 39:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Not Rett synd. - autism only
Observation 40:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Not Rett synd. - not certain
Observation 41:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Not Rett synd. - Sporadic mental retardation
Observation 42:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Not known
Observation 43:
Number of individuals with the variant: 1
Sex: male
Tissue: blood
Comment on evidence:
Not Rett synd. - Autism
Observation 44:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
|
|
Uncertain significance
(Sep 04, 2013)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: unknown
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000257517.1
First in ClinVar: Dec 18, 2015 Last updated: Dec 18, 2015 |
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
|
|
Benign
(Apr 03, 2015)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Additional submitter:
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000804256.1
First in ClinVar: Sep 01, 2018 Last updated: Sep 01, 2018 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743998.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928703.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001960130.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
click to load more click to collapse |
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 |
---|---|---|---|---|
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). | Maortua H | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23810759 |
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. | Das DK | Gene | 2013 | PMID: 23262346 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. | Psoni S | Brain & development | 2012 | PMID: 21982064 |
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. | Corbani S | Journal of intellectual disability research : JIDR | 2012 | PMID: 21954873 |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. | Hadzsiev K | Journal of human genetics | 2011 | PMID: 21160487 |
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. | Piton A | Molecular psychiatry | 2011 | PMID: 20479760 |
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. | Coutinho AM | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 2007 | PMID: 17427193 |
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. | Lesca G | European journal of medical genetics | 2007 | PMID: 17383248 |
Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. | Tejada MI | Clinical genetics | 2006 | PMID: 16879196 |
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. | Donzel-Javouhey A | American journal of medical genetics. Part A | 2006 | PMID: 16763963 |
MECP2 mutation analysis in patients with mental retardation. | Ylisaukko-Oja T | American journal of medical genetics. Part A | 2005 | PMID: 15578581 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. | Beyer KS | Human genetics | 2002 | PMID: 12384770 |
Low frequency of MECP2 mutations in mentally retarded males. | Yntema HG | European journal of human genetics : EJHG | 2002 | PMID: 12111644 |
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. | Moncla A | European journal of human genetics : EJHG | 2002 | PMID: 11896461 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. | Giunti L | Brain & development | 2001 | PMID: 11738883 |
Spectrum of MECP2 mutations in Rett syndrome. | Lee SS | Brain & development | 2001 | PMID: 11738860 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. | Buyse IM | American journal of human genetics | 2000 | PMID: 11055898 |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. | Hampson K | Journal of medical genetics | 2000 | PMID: 10991689 |
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. | Wan M | American journal of human genetics | 1999 | PMID: 10577905 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MECP2 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/77cfa1e3-28e5-41e4-a0c1-e8de6602ae4a | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9117a511-01ac-4ea0-85db-858db41ea9d3 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs56268439 ...
HelpRecord last updated Apr 20, 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.