rs80357870

minus

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

Make rs80357870(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43063881

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357870
dbSNP (classic)	rs80357870
ClinGen	rs80357870
ebi	rs80357870
HLI	rs80357870
Exac	rs80357870
Gnomad	rs80357870
Varsome	rs80357870
LitVar	rs80357870
Map	rs80357870
PheGenI	rs80357870
Biobank	rs80357870
1000 genomes	rs80357870
hgdp	rs80357870
ensembl	rs80357870
geneview	rs80357870
scholar	rs80357870
google	rs80357870
pharmgkb	rs80357870
gwascentral	rs80357870
openSNP	rs80357870
23andMe	rs80357870
SNPshot	rs80357870
SNPdbe	rs80357870
MSV3d	rs80357870
GWAS Ctlg	rs80357870

Max Magnitude

6

rs80357870, also known as 5264delC, c.5145_5145delC and p.Ser1715=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357870(-;-)
Alt	rs80357870(-;-)
Reference	Rs80357870(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41215898delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112510.2,