rs80357626

minus

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

Make rs80357626(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093512

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357626
dbSNP (classic)	rs80357626
ClinGen	rs80357626
ebi	rs80357626
HLI	rs80357626
Exac	rs80357626
Gnomad	rs80357626
Varsome	rs80357626
LitVar	rs80357626
Map	rs80357626
PheGenI	rs80357626
Biobank	rs80357626
1000 genomes	rs80357626
hgdp	rs80357626
ensembl	rs80357626
geneview	rs80357626
scholar	rs80357626
google	rs80357626
pharmgkb	rs80357626
gwascentral	rs80357626
openSNP	rs80357626
23andMe	rs80357626
SNPshot	rs80357626
SNPdbe	rs80357626
MSV3d	rs80357626
GWAS Ctlg	rs80357626

Max Magnitude

6

rs80357626, also known as 2138delA, c.2019_2019delA and p.Glu673Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357626(-;-)
Alt	rs80357626(-;-)
Reference	Rs80357626(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245529delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047685.3, RCV000077504.6, RCV000167502.1, RCV000479187.1,