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rs28934906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28934906(C;T)
Make rs28934906(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031355
GeneMECP2
is asnp
is mentioned by
dbSNPrs28934906
ebirs28934906
HLIrs28934906
Exacrs28934906
Varsomers28934906
Maprs28934906
PheGenIrs28934906
hapmaprs28934906
1000 genomesrs28934906
hgdprs28934906
ensemblrs28934906
gopubmedrs28934906
geneviewrs28934906
scholarrs28934906
googlers28934906
pharmgkbrs28934906
gwascentralrs28934906
openSNPrs28934906
23andMers28934906
23andMe allrs28934906
SNP Nexus

SNPshotrs28934906
SNPdbers28934906
MSV3drs28934906
GWAS Ctlgrs28934906
Max Magnitude0
OMIM300005
DescRETT SYNDROME
Variant0007
Relatedalso
Neighborrs28935468
Distance443
Neighborrs28934905
Distance9


ClinVar
Risk rs28934906(T;T)
Alt rs28934906(T;T)
Reference rs28934906(C;C)
Significance Pathogenic
Disease Rett syndrome Encephalopathy not provided Autism Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly
Variation info
Gene MECP2
CLNDBN Rett syndrome Encephalopathy, neonatal severe, due to mecp2 mutation not provided Autism, susceptibility to, X-linked 3 Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly
Reversed 1
HGVS NC_000023.10:g.153296806G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012580.23, RCV000012581.22, RCV000133129.3, RCV000169935.1, RCV000170109.1, RCV000170110.1,



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