rs80357069

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	Normal
(G;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357069(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43049164

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357069
dbSNP (classic)	rs80357069
ClinGen	rs80357069
ebi	rs80357069
HLI	rs80357069
Exac	rs80357069
Gnomad	rs80357069
Varsome	rs80357069
LitVar	rs80357069
Map	rs80357069
PheGenI	rs80357069
Biobank	rs80357069
1000 genomes	rs80357069
hgdp	rs80357069
ensembl	rs80357069
geneview	rs80357069
scholar	rs80357069
google	rs80357069
pharmgkb	rs80357069
gwascentral	rs80357069
openSNP	rs80357069
23andMe	rs80357069
SNPshot	rs80357069
SNPdbe	rs80357069
MSV3d	rs80357069
GWAS Ctlg	rs80357069

Max Magnitude

6

c.5363G>T (p.Gly1788Val)

ClinVar
Risk	rs80357069(A;A) rs80357069(T;T)
Alt	rs80357069(A;A) rs80357069(T;T)
Reference	Rs80357069(G;G)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41201181C>A; NC_000017.10:g.41201181C>T
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000031241.6, RCV000048961.4, RCV000162885.1, RCV000235698.2, RCV000048960.2, RCV000077620.4,