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rs28934904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28934904(C;T)
Make rs28934904(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031431
GeneMECP2
is asnp
is mentioned by
dbSNPrs28934904
ebirs28934904
HLIrs28934904
Exacrs28934904
Varsomers28934904
Maprs28934904
PheGenIrs28934904
hapmaprs28934904
1000 genomesrs28934904
hgdprs28934904
ensemblrs28934904
gopubmedrs28934904
geneviewrs28934904
scholarrs28934904
googlers28934904
pharmgkbrs28934904
gwascentralrs28934904
openSNPrs28934904
23andMers28934904
23andMe allrs28934904
SNP Nexus

SNPshotrs28934904
SNPdbers28934904
MSV3drs28934904
GWAS Ctlgrs28934904
Max Magnitude0
OMIM300005
DescRETT SYNDROME
Variant0001
Relatedalso
Neighborrs28934908
Distance22
Neighborrs28934907
Distance837


ClinVar
Risk rs28934904(G,T;G,T)
Alt rs28934904(G,T;G,T)
Reference rs28934904(C;C)
Significance Pathogenic
Disease Rett syndrome Rett syndrome not provided Angelman syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome, zappella variant Rett syndrome not provided Angelman syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296882G>A; NC_000023.10:g.153296882G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012578.23, RCV000030666.26, RCV000081202.6, RCV000169934.1, RCV000170107.2, RCV000133091.2,



[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.


[PMID 10508514] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.


[PMID 12746406OA-icon.png] Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?


[PMID 18332345] Investigating genotype-phenotype relationships in Rett syndrome using an international data set.


[PMID 18562141] Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).