rs80356937

Orientation

minus

Stabilized

minus

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

Make rs80356937(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057117

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356937
dbSNP (classic)	rs80356937
ClinGen	rs80356937
ebi	rs80356937
HLI	rs80356937
Exac	rs80356937
Gnomad	rs80356937
Varsome	rs80356937
LitVar	rs80356937
Map	rs80356937
PheGenI	rs80356937
Biobank	rs80356937
1000 genomes	rs80356937
hgdp	rs80356937
ensembl	rs80356937
geneview	rs80356937
scholar	rs80356937
google	rs80356937
pharmgkb	rs80356937
gwascentral	rs80356937
openSNP	rs80356937
23andMe	rs80356937
SNPshot	rs80356937
SNPdbe	rs80356937
MSV3d	rs80356937
GWAS Ctlg	rs80356937

Max Magnitude

6

c.5212G>A (p.Gly1738Arg)

ClinVar designates this as pathogenic for breast cancer

ClinVar
Risk	rs80356937(A;A) rs80356937(T;T)
Alt	rs80356937(A;A) rs80356937(T;T)
Reference	Rs80356937(G;G)
Significance	Other
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41209134C>A; NC_000017.10:g.41209134C>T
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000256845.2, RCV000112566.2, RCV000239131.2,