rs80357587

Orientation

minus

Stabilized

minus

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

Make rs80357587(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094649

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357587
dbSNP (classic)	rs80357587
ClinGen	rs80357587
ebi	rs80357587
HLI	rs80357587
Exac	rs80357587
Gnomad	rs80357587
Varsome	rs80357587
LitVar	rs80357587
Map	rs80357587
PheGenI	rs80357587
Biobank	rs80357587
1000 genomes	rs80357587
hgdp	rs80357587
ensembl	rs80357587
geneview	rs80357587
scholar	rs80357587
google	rs80357587
pharmgkb	rs80357587
gwascentral	rs80357587
openSNP	rs80357587
23andMe	rs80357587
SNPshot	rs80357587
SNPdbe	rs80357587
MSV3d	rs80357587
GWAS Ctlg	rs80357587

Max Magnitude

6

rs80357587, also known as 1001delA, c.882_882delA and p.Lys294=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357587(-;-)
Alt	rs80357587(-;-)
Reference	Rs80357587(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246666delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111490.3,