rs80357627

minus

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

Make rs80357627(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092579

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357627
dbSNP (classic)	rs80357627
ClinGen	rs80357627
ebi	rs80357627
HLI	rs80357627
Exac	rs80357627
Gnomad	rs80357627
Varsome	rs80357627
LitVar	rs80357627
Map	rs80357627
PheGenI	rs80357627
Biobank	rs80357627
1000 genomes	rs80357627
hgdp	rs80357627
ensembl	rs80357627
geneview	rs80357627
scholar	rs80357627
google	rs80357627
pharmgkb	rs80357627
gwascentral	rs80357627
openSNP	rs80357627
23andMe	rs80357627
SNPshot	rs80357627
SNPdbe	rs80357627
MSV3d	rs80357627
GWAS Ctlg	rs80357627

Max Magnitude

6

rs80357627, also known as 3071delT, c.2952_2952delT and p.Phe984=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357627(-;-)
Alt	rs80357627(-;-)
Reference	Rs80357627(T;T)
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.41244596delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048021.2, RCV000111971.3,