chrX:154031431:G>A Detail (hg38) (MECP2)

Information

Genome

Assembly Position
hg19 chrX:153,296,882-153,296,882 View the variant detail on this assembly version.
hg38 chrX:154,031,431-154,031,431

HGVS

Type Transcript Protein
RefSeq NM_001110792.1:c.433C>T NP_001104262.1:p.Arg145Cys
NM_004992.3:c.397C>T NP_004983.1:p.Arg133Cys
NM_001316337.1:c.397C>T NP_001303266.1:p.Arg133Cys
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 300005 OMIM
HGNC 6990 HGNC
Ensembl ENSG00000169057 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-03-01 no assertion criteria provided Rett syndrome, zappella variant germline Detail
Pathogenic 2022-05-10 reviewed by expert panel Rett syndrome de novo germline maternal unknown Detail
Pathogenic 2022-05-23 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2013-12-05 no assertion criteria provided Angelman syndrome unknown Detail
Pathogenic 2013-12-05 no assertion criteria provided X-linked intellectual disability-psychosis-macroorchidism syndrome unknown Detail
Uncertain significance 2015-07-16 criteria provided, single submitter not specified unknown Detail
Pathogenic 2024-01-17 criteria provided, single submitter Severe neonatal-onset encephalopathy with microcephaly germline Detail
Pathogenic 2022-03-29 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2020-04-20 criteria provided, single submitter intellectual disability de novo Detail
Pathogenic criteria provided, single submitter de novo Detail
Pathogenic 2024-03-14 criteria provided, single submitter syndromic X-linked intellectual disability Lubs type germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Mental Retardation, X-Linked, Syndromic 13 NA CLINVAR Detail
0.120 Rett syndrome, zappella variant NA CLINVAR Detail
0.247 Angelman syndrome NA CLINVAR Detail
0.800 Rett syndrome NA CLINVAR Detail
0.800 Rett syndrome Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, ... BeFree 18499664 Detail
0.800 Rett syndrome Classic Rett syndrome in a boy with R133C mutation of MECP2. BeFree 16122633 Detail
0.800 Rett syndrome Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-bind... UNIPROT 10508514 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Rett syndrome, zappella variant ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Rett syndrome ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND not provided ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Angelman syndrome ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND X-linked intellectual disability-psychosis-macroorc... ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND not specified ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Severe neonatal-onset encephalopathy with microceph... ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Inborn genetic diseases ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Intellectual disability ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Neurodevelopmental delay ClinVar Detail
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) AND Syndromic X-linked intellectual disability Lubs typ... ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) locate... DisGeNET Detail
Classic Rett syndrome in a boy with R133C mutation of MECP2. DisGeNET Detail
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28934904 dbSNP
Genome
hg38
Position
chrX:154,031,431-154,031,431
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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