rs193026789

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	7	Frontotemporal dementia mutation
(C;C)	0	common in clinvar

Make rs193026789(C;T)

Make rs193026789(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44352047

Gene

GRN

is a	snp
is	mentioned by
dbSNP	rs193026789
dbSNP (classic)	rs193026789
ClinGen	rs193026789
ebi	rs193026789
HLI	rs193026789
Exac	rs193026789
Gnomad	rs193026789
Varsome	rs193026789
LitVar	rs193026789
Map	rs193026789
PheGenI	rs193026789
Biobank	rs193026789
1000 genomes	rs193026789
hgdp	rs193026789
ensembl	rs193026789
geneview	rs193026789
scholar	rs193026789
google	rs193026789
pharmgkb	rs193026789
gwascentral	rs193026789
openSNP	rs193026789
23andMe	rs193026789
SNPshot	rs193026789
SNPdbe	rs193026789
MSV3d	rs193026789
GWAS Ctlg	rs193026789

Max Magnitude

7

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(A;A) rs193026789(T;T)
Alt	rs193026789(A;A) 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,