rs80357558

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357558(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047693

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357558
dbSNP (classic)	rs80357558
ClinGen	rs80357558
ebi	rs80357558
HLI	rs80357558
Exac	rs80357558
Gnomad	rs80357558
Varsome	rs80357558
LitVar	rs80357558
Map	rs80357558
PheGenI	rs80357558
Biobank	rs80357558
1000 genomes	rs80357558
hgdp	rs80357558
ensembl	rs80357558
geneview	rs80357558
scholar	rs80357558
google	rs80357558
pharmgkb	rs80357558
gwascentral	rs80357558
openSNP	rs80357558
23andMe	rs80357558
SNPshot	rs80357558
SNPdbe	rs80357558
MSV3d	rs80357558
GWAS Ctlg	rs80357558

Max Magnitude

6

rs80357558, also known as 5536delC, c.5417_5417delC and p.Pro1806Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357558(-;-)
Alt	rs80357558(-;-)
Reference	Rs80357558(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41199710delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031250.6, RCV000048985.2,