rs80357611

minus

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

Make rs80357611(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092610

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357611
dbSNP (classic)	rs80357611
ClinGen	rs80357611
ebi	rs80357611
HLI	rs80357611
Exac	rs80357611
Gnomad	rs80357611
Varsome	rs80357611
LitVar	rs80357611
Map	rs80357611
PheGenI	rs80357611
Biobank	rs80357611
1000 genomes	rs80357611
hgdp	rs80357611
ensembl	rs80357611
geneview	rs80357611
scholar	rs80357611
google	rs80357611
pharmgkb	rs80357611
gwascentral	rs80357611
openSNP	rs80357611
23andMe	rs80357611
SNPshot	rs80357611
SNPdbe	rs80357611
MSV3d	rs80357611
GWAS Ctlg	rs80357611

Max Magnitude

6

rs80357611, also known as 3039delTT, c.2920_2921delTT and p.Leu974Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357611(-;-)
Alt	rs80357611(-;-)
Reference	Rs80357611(TT;TT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244627_41244628delAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048009.2, RCV000111964.2,