rs80357600

minus

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

Make rs80357600(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093857

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357600
dbSNP (classic)	rs80357600
ClinGen	rs80357600
ebi	rs80357600
HLI	rs80357600
Exac	rs80357600
Gnomad	rs80357600
Varsome	rs80357600
LitVar	rs80357600
Map	rs80357600
PheGenI	rs80357600
Biobank	rs80357600
1000 genomes	rs80357600
hgdp	rs80357600
ensembl	rs80357600
geneview	rs80357600
scholar	rs80357600
google	rs80357600
pharmgkb	rs80357600
gwascentral	rs80357600
openSNP	rs80357600
23andMe	rs80357600
SNPshot	rs80357600
SNPdbe	rs80357600
MSV3d	rs80357600
GWAS Ctlg	rs80357600

Max Magnitude

6

rs80357600, also known as 1793delA, c.1674_1674delA and p.Lys558=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357600(-;-)
Alt	rs80357600(-;-)
Reference	Rs80357600(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided
Reversed	1
HGVS	NC_000017.10:g.41245874delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031006.6, RCV000047556.4, RCV000470654.1, RCV000486975.1,