rs80357773

minus

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

Make rs80357773(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093451

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357773
dbSNP (classic)	rs80357773
ClinGen	rs80357773
ebi	rs80357773
HLI	rs80357773
Exac	rs80357773
Gnomad	rs80357773
Varsome	rs80357773
LitVar	rs80357773
Map	rs80357773
PheGenI	rs80357773
Biobank	rs80357773
1000 genomes	rs80357773
hgdp	rs80357773
ensembl	rs80357773
geneview	rs80357773
scholar	rs80357773
google	rs80357773
pharmgkb	rs80357773
gwascentral	rs80357773
openSNP	rs80357773
23andMe	rs80357773
SNPshot	rs80357773
SNPdbe	rs80357773
MSV3d	rs80357773
GWAS Ctlg	rs80357773

Max Magnitude

6

rs80357773, also known as 2198delCA, c.2079_2080delCA and p.Asp693_Ser694GluArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357773(-;-)
Alt	rs80357773(-;-)
Reference	Rs80357773(CA;CA)
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.41245468_41245469delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047704.2, RCV000111762.2,