rs80357562

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TT)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357562(TT;TT)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091937

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357562
dbSNP (classic)	rs80357562
ClinGen	rs80357562
ebi	rs80357562
HLI	rs80357562
Exac	rs80357562
Gnomad	rs80357562
Varsome	rs80357562
LitVar	rs80357562
Map	rs80357562
PheGenI	rs80357562
Biobank	rs80357562
1000 genomes	rs80357562
hgdp	rs80357562
ensembl	rs80357562
geneview	rs80357562
scholar	rs80357562
google	rs80357562
pharmgkb	rs80357562
gwascentral	rs80357562
openSNP	rs80357562
23andMe	rs80357562
SNPshot	rs80357562
SNPdbe	rs80357562
MSV3d	rs80357562
GWAS Ctlg	rs80357562

Max Magnitude

6

rs80357562, also known as 3712insTT, c.3593_3594insTT and p.Leu1198?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357562(TT;TT)
Alt	rs80357562(TT;TT)
Reference	Rs80357562(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243955_41243956dupAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000241309.2,