rs80357531

minus

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

Make rs80357531(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091944

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357531
dbSNP (classic)	rs80357531
ClinGen	rs80357531
ebi	rs80357531
HLI	rs80357531
Exac	rs80357531
Gnomad	rs80357531
Varsome	rs80357531
LitVar	rs80357531
Map	rs80357531
PheGenI	rs80357531
Biobank	rs80357531
1000 genomes	rs80357531
hgdp	rs80357531
ensembl	rs80357531
geneview	rs80357531
scholar	rs80357531
google	rs80357531
pharmgkb	rs80357531
gwascentral	rs80357531
openSNP	rs80357531
23andMe	rs80357531
SNPshot	rs80357531
SNPdbe	rs80357531
MSV3d	rs80357531
GWAS Ctlg	rs80357531

Max Magnitude

6

rs80357531, also known as 3705insA, c.3586_3587insA and p.Thr1196?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357531(A;A)
Alt	rs80357531(A;A)
Reference	Rs80357531(-;-)
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.41243962dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048240.2, RCV000112125.3,