rs80357657

minus

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

Make rs80357657(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093247

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357657
dbSNP (classic)	rs80357657
ClinGen	rs80357657
ebi	rs80357657
HLI	rs80357657
Exac	rs80357657
Gnomad	rs80357657
Varsome	rs80357657
LitVar	rs80357657
Map	rs80357657
PheGenI	rs80357657
Biobank	rs80357657
1000 genomes	rs80357657
hgdp	rs80357657
ensembl	rs80357657
geneview	rs80357657
scholar	rs80357657
google	rs80357657
pharmgkb	rs80357657
gwascentral	rs80357657
openSNP	rs80357657
23andMe	rs80357657
SNPshot	rs80357657
SNPdbe	rs80357657
MSV3d	rs80357657
GWAS Ctlg	rs80357657

Max Magnitude

6

rs80357657, also known as 2402delAA, c.2283_2284delAA and p.Glu761_Arg762GluIlefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357657(-;-)
Alt	rs80357657(-;-)
Reference	Rs80357657(AA;AA)
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.41245264_41245265delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047782.2, RCV000111816.3,