rs80357541

minus

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

Make rs80357541(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092872

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357541
dbSNP (classic)	rs80357541
ClinGen	rs80357541
ebi	rs80357541
HLI	rs80357541
Exac	rs80357541
Gnomad	rs80357541
Varsome	rs80357541
LitVar	rs80357541
Map	rs80357541
PheGenI	rs80357541
Biobank	rs80357541
1000 genomes	rs80357541
hgdp	rs80357541
ensembl	rs80357541
geneview	rs80357541
scholar	rs80357541
google	rs80357541
pharmgkb	rs80357541
gwascentral	rs80357541
openSNP	rs80357541
23andMe	rs80357541
SNPshot	rs80357541
SNPdbe	rs80357541
MSV3d	rs80357541
GWAS Ctlg	rs80357541

Max Magnitude

6

rs80357541, also known as 2777insA, c.2658_2659insA and p.Ser886_Ala887?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357541(A;A)
Alt	rs80357541(A;A)
Reference	Rs80357541(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244889_41244890insT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111909.2,