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rs61750240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750240(C;T)
Make rs61750240(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031020
GeneMECP2
is asnp
is mentioned by
dbSNPrs61750240
ebirs61750240
HLIrs61750240
Exacrs61750240
Varsomers61750240
Maprs61750240
PheGenIrs61750240
hapmaprs61750240
1000 genomesrs61750240
hgdprs61750240
ensemblrs61750240
gopubmedrs61750240
geneviewrs61750240
scholarrs61750240
googlers61750240
pharmgkbrs61750240
gwascentralrs61750240
openSNPrs61750240
23andMers61750240
23andMe allrs61750240
SNP Nexus

SNPshotrs61750240
SNPdbers61750240
MSV3drs61750240
GWAS Ctlgrs61750240
Max Magnitude0
OMIM300005
Desc
Variant0005
Relatedalso


ClinVar
Risk rs61750240(G,T;G,T)
Alt rs61750240(G,T;G,T)
Reference rs61750240(C;C)
Significance Pathogenic
Disease Rett syndrome not provided Encephalopathy Severe neonatal-onset encephalopathy with microcephaly Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296471G>A; NC_000023.10:g.153296471G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012586.23, RCV000081212.7, RCV000146359.1, RCV000169940.1, RCV000178231.1, RCV000133242.1,



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