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rs606231220

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
(-;CCTG) 7 Frontotemporal dementia mutation
Make rs606231220(-;-)
Make rs606231220(CCTG;CCTG)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position44349260
GeneGRN
is asnp
is mentioned by
dbSNPrs606231220
ebirs606231220
HLIrs606231220
Exacrs606231220
Varsomers606231220
Maprs606231220
PheGenIrs606231220
hapmaprs606231220
1000 genomesrs606231220
hgdprs606231220
ensemblrs606231220
gopubmedrs606231220
geneviewrs606231220
scholarrs606231220
googlers606231220
pharmgkbrs606231220
gwascentralrs606231220
openSNPrs606231220
23andMers606231220
23andMe allrs606231220
SNP Nexus

SNPshotrs606231220
SNPdbers606231220
MSV3drs606231220
GWAS Ctlgrs606231220
Max Magnitude7

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,