rs80357602

minus

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

Make rs80357602(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093277

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357602
dbSNP (classic)	rs80357602
ClinGen	rs80357602
ebi	rs80357602
HLI	rs80357602
Exac	rs80357602
Gnomad	rs80357602
Varsome	rs80357602
LitVar	rs80357602
Map	rs80357602
PheGenI	rs80357602
Biobank	rs80357602
1000 genomes	rs80357602
hgdp	rs80357602
ensembl	rs80357602
geneview	rs80357602
scholar	rs80357602
google	rs80357602
pharmgkb	rs80357602
gwascentral	rs80357602
openSNP	rs80357602
23andMe	rs80357602
SNPshot	rs80357602
SNPdbe	rs80357602
MSV3d	rs80357602
GWAS Ctlg	rs80357602

Max Magnitude

6

rs80357602, also known as 2372delGT, c.2253_2254delGT and p.Met751_Leu752IleLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357602(-;-)
Alt	rs80357602(-;-)
Reference	Rs80357602(GT;GT)
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.41245294_41245295delAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047775.2, RCV000111808.3,