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rs863225076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225076(-;-)
Make rs863225076(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114324886
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs863225076
dbSNP (classic)rs863225076
ClinGenrs863225076
ebirs863225076
HLIrs863225076
Exacrs863225076
Gnomadrs863225076
Varsomers863225076
LitVarrs863225076
Maprs863225076
PheGenIrs863225076
Biobankrs863225076
1000 genomesrs863225076
hgdprs863225076
ensemblrs863225076
geneviewrs863225076
scholarrs863225076
googlers863225076
pharmgkbrs863225076
gwascentralrs863225076
openSNPrs863225076
23andMers863225076
SNPshotrs863225076
SNPdbers863225076
MSV3drs863225076
GWAS Ctlgrs863225076
Max Magnitude0

aka c.1044delG (p.Trp348Terfs)

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 rs863225076(-;-)
Alt rs863225076(-;-)
Reference Rs863225076(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene CHAMP1
CLNDBN not provided
Reversed 0
HGVS NC_000013.10:g.115090361delG
CLNSRC
CLNACC RCV000202042.1,