rs80357506

minus

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

Make rs80357506(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094023

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357506
dbSNP (classic)	rs80357506
ClinGen	rs80357506
ebi	rs80357506
HLI	rs80357506
Exac	rs80357506
Gnomad	rs80357506
Varsome	rs80357506
LitVar	rs80357506
Map	rs80357506
PheGenI	rs80357506
Biobank	rs80357506
1000 genomes	rs80357506
hgdp	rs80357506
ensembl	rs80357506
geneview	rs80357506
scholar	rs80357506
google	rs80357506
pharmgkb	rs80357506
gwascentral	rs80357506
openSNP	rs80357506
23andMe	rs80357506
SNPshot	rs80357506
SNPdbe	rs80357506
MSV3d	rs80357506
GWAS Ctlg	rs80357506

Max Magnitude

6

rs80357506, also known as 1627delA, c.1508_1508delA and p.Lys503Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357506(-;-)
Alt	rs80357506(-;-)
Reference	Rs80357506(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41246040delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047503.2, RCV000111634.3, RCV000484870.1,