rs80357220

Orientation

minus

Stabilized

minus

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

Make rs80357220(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093712

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357220
dbSNP (classic)	rs80357220
ClinGen	rs80357220
ebi	rs80357220
HLI	rs80357220
Exac	rs80357220
Gnomad	rs80357220
Varsome	rs80357220
LitVar	rs80357220
Map	rs80357220
PheGenI	rs80357220
Biobank	rs80357220
1000 genomes	rs80357220
hgdp	rs80357220
ensembl	rs80357220
geneview	rs80357220
scholar	rs80357220
google	rs80357220
pharmgkb	rs80357220
gwascentral	rs80357220
openSNP	rs80357220
23andMe	rs80357220
SNPshot	rs80357220
SNPdbe	rs80357220
MSV3d	rs80357220
GWAS Ctlg	rs80357220

Max Magnitude

6

rs80357220, also known as K607X, c.1819A>T and p.Lys607Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357220(G;G) rs80357220(T;T)
Alt	rs80357220(G;G) rs80357220(T;T)
Reference	Rs80357220(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41245729T>A; NC_000017.10:g.41245729T>C
CLNSRC	ClinVar
CLNACC	RCV000047594.2, RCV000111691.3, RCV000240791.1,