rs80357645

minus

Geno	Mag	Summary
(-;AG)	6	BRCA1 variant considered pathogenic for breast cancer
(-;GA)	6	BRCA1 variant considered pathogenic for breast cancer
(AG;AG)	0	common/normal
(GA;GA)	0	common in clinvar

Make rs80357645(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091769

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357645
dbSNP (classic)	rs80357645
ClinGen	rs80357645
ebi	rs80357645
HLI	rs80357645
Exac	rs80357645
Gnomad	rs80357645
Varsome	rs80357645
LitVar	rs80357645
Map	rs80357645
PheGenI	rs80357645
Biobank	rs80357645
1000 genomes	rs80357645
hgdp	rs80357645
ensembl	rs80357645
geneview	rs80357645
scholar	rs80357645
google	rs80357645
pharmgkb	rs80357645
gwascentral	rs80357645
openSNP	rs80357645
23andMe	rs80357645
SNPshot	rs80357645
SNPdbe	rs80357645
MSV3d	rs80357645
GWAS Ctlg	rs80357645

Merged from

Rs397509102

Max Magnitude

6

rs80357645, also known as 3880delAG, c.3761_3762delAG and p.Lys1254=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357645(GA;GA) rs80357645(-;-)
Alt	Rs80357645(GA;GA) rs80357645(-;-)
Reference	Rs80357645(AG;AG)
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.41243785_41243786delTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048322.2, RCV000112176.3,