Have questions? Visit https://www.reddit.com/r/SNPedia

rs28934908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28934908(C;T)
Make rs28934908(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031409
GeneMECP2
is asnp
is mentioned by
dbSNPrs28934908
ebirs28934908
HLIrs28934908
Exacrs28934908
Varsomers28934908
Maprs28934908
PheGenIrs28934908
hapmaprs28934908
1000 genomesrs28934908
hgdprs28934908
ensemblrs28934908
gopubmedrs28934908
geneviewrs28934908
scholarrs28934908
googlers28934908
pharmgkbrs28934908
gwascentralrs28934908
openSNPrs28934908
23andMers28934908
23andMe allrs28934908
SNP Nexus

SNPshotrs28934908
SNPdbers28934908
MSV3drs28934908
GWAS Ctlgrs28934908
Max Magnitude0
OMIM300005
DescMENTAL RETARDATION, X-LINKED 16
Variant0015
Relatedalso
Neighborrs28934905
Distance45
Neighborrs28934904
Distance22


ClinVar
Risk rs28934908(A,T;A,T)
Alt rs28934908(A,T;A,T)
Reference rs28934908(C;C)
Significance Other
Disease Mental retardation Rett syndrome not provided
Variation info
Gene MECP2
CLNDBN Mental retardation, X-linked, syndromic 13 Rett syndrome not provided
Reversed 1
HGVS NC_000023.10:g.153296860G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012596.28, RCV000020628.4, RCV000224266.1,



[PMID 12325] Design of a standard protocol for the challenge testing of antimicrobial preservative solutions [proceedings].


[PMID 11007980] MECP2 mutation in male patients with non-specific X-linked mental retardation.


[PMID 11309367] MECP2 is highly mutated in X-linked mental retardation.


[PMID 11772708] MECP2 mutation in a boy with language disorder and schizophrenia.


[PMID 11805248] A Rett syndrome MECP2 mutation that causes mental retardation in men.


[PMID 11885030OA-icon.png] A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.