rs80357556

minus

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

Make rs80357556(C;C)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43082471

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357556
dbSNP (classic)	rs80357556
ClinGen	rs80357556
ebi	rs80357556
HLI	rs80357556
Exac	rs80357556
Gnomad	rs80357556
Varsome	rs80357556
LitVar	rs80357556
Map	rs80357556
PheGenI	rs80357556
Biobank	rs80357556
1000 genomes	rs80357556
hgdp	rs80357556
ensembl	rs80357556
geneview	rs80357556
scholar	rs80357556
google	rs80357556
pharmgkb	rs80357556
gwascentral	rs80357556
openSNP	rs80357556
23andMe	rs80357556
SNPshot	rs80357556
SNPdbe	rs80357556
MSV3d	rs80357556
GWAS Ctlg	rs80357556

Max Magnitude

6

rs80357556, also known as 4408insC, c.4289_4290insC and p.Pro1430?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357556(C;C)
Alt	rs80357556(C;C)
Reference	Rs80357556(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41234489dupG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112309.3,