rs80357802

minus

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

Make rs80357802(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093313

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357802
dbSNP (classic)	rs80357802
ClinGen	rs80357802
ebi	rs80357802
HLI	rs80357802
Exac	rs80357802
Gnomad	rs80357802
Varsome	rs80357802
LitVar	rs80357802
Map	rs80357802
PheGenI	rs80357802
Biobank	rs80357802
1000 genomes	rs80357802
hgdp	rs80357802
ensembl	rs80357802
geneview	rs80357802
scholar	rs80357802
google	rs80357802
pharmgkb	rs80357802
gwascentral	rs80357802
openSNP	rs80357802
23andMe	rs80357802
SNPshot	rs80357802
SNPdbe	rs80357802
MSV3d	rs80357802
GWAS Ctlg	rs80357802

Max Magnitude

6

rs80357802, also known as 2336insA, c.2217_2218insA and p.Lys739_Val740?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357802(A;A)
Alt	rs80357802(A;A)
Reference	Rs80357802(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245331dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111797.3,