rs80357850

minus

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

Make rs80357850(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093138

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357850
dbSNP (classic)	rs80357850
ClinGen	rs80357850
ebi	rs80357850
HLI	rs80357850
Exac	rs80357850
Gnomad	rs80357850
Varsome	rs80357850
LitVar	rs80357850
Map	rs80357850
PheGenI	rs80357850
Biobank	rs80357850
1000 genomes	rs80357850
hgdp	rs80357850
ensembl	rs80357850
geneview	rs80357850
scholar	rs80357850
google	rs80357850
pharmgkb	rs80357850
gwascentral	rs80357850
openSNP	rs80357850
23andMe	rs80357850
SNPshot	rs80357850
SNPdbe	rs80357850
MSV3d	rs80357850
GWAS Ctlg	rs80357850

Max Magnitude

6

rs80357850, also known as 2512delC, c.2393_2393delC and p.Pro798Glnfs, and also c.2392_2393delCCinsA, represent at least two variants in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357850(-;-)
Alt	rs80357850(-;-)
Reference	Rs80357850(C;C)
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.41245155delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047823.2, RCV000111841.2,