rs606231220

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;CCTG)	7	Frontotemporal dementia mutation

Make rs606231220(CCTG;CCTG)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

44349260

Gene

GRN

is a	snp
is	mentioned by
dbSNP	rs606231220
dbSNP (classic)	rs606231220
ClinGen	rs606231220
ebi	rs606231220
HLI	rs606231220
Exac	rs606231220
Gnomad	rs606231220
Varsome	rs606231220
LitVar	rs606231220
Map	rs606231220
PheGenI	rs606231220
Biobank	rs606231220
1000 genomes	rs606231220
hgdp	rs606231220
ensembl	rs606231220
geneview	rs606231220
scholar	rs606231220
google	rs606231220
pharmgkb	rs606231220
gwascentral	rs606231220
openSNP	rs606231220
23andMe	rs606231220
SNPshot	rs606231220
SNPdbe	rs606231220
MSV3d	rs606231220
GWAS Ctlg	rs606231220

Max Magnitude

7

rs606231220, also known as c.93_96dupCCTG and p.Asp33Profs, represents a very rare mutation in the GRN gene on chromosome 17.

The rs606231220(CCTG) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk	rs606231220(CTGC;CTGC)
Alt	rs606231220(CTGC;CTGC)
Reference	Rs606231220(-;-)
Significance	Pathogenic
Disease	Frontotemporal dementia
Variation	info
Gene	GRN
CLNDBN	Frontotemporal dementia, ubiquitin-positive
Reversed	0
HGVS	NC_000017.10:g.42426625_42426628dupCCTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017383.29,