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rs863225075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225075(A;A)
Make rs863225075(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114325386
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs863225075
dbSNP (classic)rs863225075
ClinGenrs863225075
ebirs863225075
HLIrs863225075
Exacrs863225075
Gnomadrs863225075
Varsomers863225075
LitVarrs863225075
Maprs863225075
PheGenIrs863225075
Biobankrs863225075
1000 genomesrs863225075
hgdprs863225075
ensemblrs863225075
geneviewrs863225075
scholarrs863225075
googlers863225075
pharmgkbrs863225075
gwascentralrs863225075
openSNPrs863225075
23andMers863225075
SNPshotrs863225075
SNPdbers863225075
MSV3drs863225075
GWAS Ctlgrs863225075
Max Magnitude0

aka c.1544G>A (p.Trp515Ter)

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.


ClinVar
Risk rs863225075(A;A)
Alt rs863225075(A;A)
Reference Rs863225075(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene CHAMP1
CLNDBN not provided
Reversed 0
HGVS NC_000013.10:g.115090861G>A
CLNSRC
CLNACC RCV000202287.1,