rs80357738

minus

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

Make rs80357738(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104878

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357738
dbSNP (classic)	rs80357738
ClinGen	rs80357738
ebi	rs80357738
HLI	rs80357738
Exac	rs80357738
Gnomad	rs80357738
Varsome	rs80357738
LitVar	rs80357738
Map	rs80357738
PheGenI	rs80357738
Biobank	rs80357738
1000 genomes	rs80357738
hgdp	rs80357738
ensembl	rs80357738
geneview	rs80357738
scholar	rs80357738
google	rs80357738
pharmgkb	rs80357738
gwascentral	rs80357738
openSNP	rs80357738
23andMe	rs80357738
SNPshot	rs80357738
SNPdbe	rs80357738
MSV3d	rs80357738
GWAS Ctlg	rs80357738

Max Magnitude

6

rs80357738, also known as 409delCA, c.290_291delCA and p.Thr97Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357738(-;-)
Alt	rs80357738(-;-)
Reference	Rs80357738(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.41256895_41256896delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048003.2, RCV000112223.3,