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rs1131691845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
Make rs1131691845(C;T)
Make rs1131691845(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome13
Position114324245
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs1131691845
dbSNP (old)rs1131691845
ClinGenrs1131691845
ebirs1131691845
HLIrs1131691845
Exacrs1131691845
Gnomadrs1131691845
Varsomers1131691845
Maprs1131691845
PheGenIrs1131691845
Biobankrs1131691845
1000 genomesrs1131691845
hgdprs1131691845
ensemblrs1131691845
gopubmedrs1131691845
geneviewrs1131691845
scholarrs1131691845
googlers1131691845
pharmgkbrs1131691845
gwascentralrs1131691845
openSNPrs1131691845
23andMers1131691845
23andMe allrs1131691845
SNPshotrs1131691845
SNPdbers1131691845
MSV3drs1131691845
GWAS Ctlgrs1131691845
Max Magnitude0

aka c.403C>T (p.Gln135Ter)

Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.