rs80357800

minus

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

Make rs80357800(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093053

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357800
dbSNP (classic)	rs80357800
ClinGen	rs80357800
ebi	rs80357800
HLI	rs80357800
Exac	rs80357800
Gnomad	rs80357800
Varsome	rs80357800
LitVar	rs80357800
Map	rs80357800
PheGenI	rs80357800
Biobank	rs80357800
1000 genomes	rs80357800
hgdp	rs80357800
ensembl	rs80357800
geneview	rs80357800
scholar	rs80357800
google	rs80357800
pharmgkb	rs80357800
gwascentral	rs80357800
openSNP	rs80357800
23andMe	rs80357800
SNPshot	rs80357800
SNPdbe	rs80357800
MSV3d	rs80357800
GWAS Ctlg	rs80357800

Max Magnitude

6

rs80357800, also known as 2596delCA, c.2477_2478delCA and p.Thr826Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357800(-;-)
Alt	rs80357800(-;-)
Reference	Rs80357800(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.41245070_41245071delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047853.2, RCV000111874.3,