rs80357534

minus

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

Make rs80357534(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43074472

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357534
dbSNP (classic)	rs80357534
ClinGen	rs80357534
ebi	rs80357534
HLI	rs80357534
Exac	rs80357534
Gnomad	rs80357534
Varsome	rs80357534
LitVar	rs80357534
Map	rs80357534
PheGenI	rs80357534
Biobank	rs80357534
1000 genomes	rs80357534
hgdp	rs80357534
ensembl	rs80357534
geneview	rs80357534
scholar	rs80357534
google	rs80357534
pharmgkb	rs80357534
gwascentral	rs80357534
openSNP	rs80357534
23andMe	rs80357534
SNPshot	rs80357534
SNPdbe	rs80357534
MSV3d	rs80357534
GWAS Ctlg	rs80357534

Max Magnitude

6

rs80357534, also known as c.4531_4532delCA, 4652delCA, c.4533_4534delCA and p.His1511_Ser1512GlnLeufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357534(-;-)
Alt	rs80357534(-;-)
Reference	Rs80357534(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.41226489_41226490delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048588.2, RCV000112354.3,