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rs193026789

From SNPedia

Orientationplus
Geno Mag Summary
(A;C) 7 Frontotemporal dementia mutation
(C;C) 0 common in clinvar
Make rs193026789(C;T)
Make rs193026789(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44352047
GeneGRN
is asnp
is mentioned by
dbSNPrs193026789
ebirs193026789
HLIrs193026789
Exacrs193026789
Varsomers193026789
Maprs193026789
PheGenIrs193026789
hapmaprs193026789
1000 genomesrs193026789
hgdprs193026789
ensemblrs193026789
gopubmedrs193026789
geneviewrs193026789
scholarrs193026789
googlers193026789
pharmgkbrs193026789
gwascentralrs193026789
openSNPrs193026789
23andMers193026789
23andMe allrs193026789
SNP Nexus

SNPshotrs193026789
SNPdbers193026789
MSV3drs193026789
GWAS Ctlgrs193026789
Max Magnitude7

rs193026789, also known as c.1212C>A and p.Cys404Ter, represents a very rare mutation in the GRN gene on chromosome 17.

The rs193026789(A) mutation is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.


ClinVar
Risk rs193026789(T;T)
Alt rs193026789(T;T)
Reference rs193026789(C;C)
Significance Pathogenic
Disease Frontotemporal dementia
Variation info
Gene GRN
CLNDBN Frontotemporal dementia
Reversed 0
HGVS NC_000017.10:g.42429415C>A
CLNSRC
CLNACC RCV000185612.1,