rs80357775

minus

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

Make rs80357775(C;C)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094546

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357775
dbSNP (classic)	rs80357775
ClinGen	rs80357775
ebi	rs80357775
HLI	rs80357775
Exac	rs80357775
Gnomad	rs80357775
Varsome	rs80357775
LitVar	rs80357775
Map	rs80357775
PheGenI	rs80357775
Biobank	rs80357775
1000 genomes	rs80357775
hgdp	rs80357775
ensembl	rs80357775
geneview	rs80357775
scholar	rs80357775
google	rs80357775
pharmgkb	rs80357775
gwascentral	rs80357775
openSNP	rs80357775
23andMe	rs80357775
SNPshot	rs80357775
SNPdbe	rs80357775
MSV3d	rs80357775
GWAS Ctlg	rs80357775

Max Magnitude

6

rs80357775, also known as 1103insC, c.984_985insC and p.Cys328_Asn329?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357775(C;C)
Alt	rs80357775(C;C)
Reference	Rs80357775(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246563_41246564insG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111522.2,