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rs794729672

From SNPedia

Orientationplus
Geno Mag Summary
(-;C) 7 Frontotemporal dementia mutation
Make rs794729672(-;-)
Make rs794729672(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44349251
GeneGRN
is asnp
is mentioned by
dbSNPrs794729672
ebirs794729672
HLIrs794729672
Exacrs794729672
Varsomers794729672
Maprs794729672
PheGenIrs794729672
hapmaprs794729672
1000 genomesrs794729672
hgdprs794729672
ensemblrs794729672
gopubmedrs794729672
geneviewrs794729672
scholarrs794729672
googlers794729672
pharmgkbrs794729672
gwascentralrs794729672
openSNPrs794729672
23andMers794729672
23andMe allrs794729672
SNP Nexus

SNPshotrs794729672
SNPdbers794729672
MSV3drs794729672
GWAS Ctlgrs794729672
Max Magnitude7

rs794729672, also known as c.87dupC and p.Cys30Leufs, represents a very rare mutation in the GRN gene on chromosome 17.

The rs794729672(C) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk rs794729672(C;C)
Alt rs794729672(C;C)
Reference rs794729672(;)
Significance Pathogenic
Disease Frontotemporal dementia
Variation info
Gene GRN
CLNDBN Frontotemporal dementia
Reversed 0
HGVS NC_000017.10:g.42426619dupC
CLNSRC
CLNACC RCV000185614.1,