rs80357744

minus

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

Make rs80357744(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43049174

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357744
dbSNP (classic)	rs80357744
ClinGen	rs80357744
ebi	rs80357744
HLI	rs80357744
Exac	rs80357744
Gnomad	rs80357744
Varsome	rs80357744
LitVar	rs80357744
Map	rs80357744
PheGenI	rs80357744
Biobank	rs80357744
1000 genomes	rs80357744
hgdp	rs80357744
ensembl	rs80357744
geneview	rs80357744
scholar	rs80357744
google	rs80357744
pharmgkb	rs80357744
gwascentral	rs80357744
openSNP	rs80357744
23andMe	rs80357744
SNPshot	rs80357744
SNPdbe	rs80357744
MSV3d	rs80357744
GWAS Ctlg	rs80357744

Max Magnitude

6

rs80357744, also known as 5471insA, c.5352_5353insA and p.Val1784_Gln1785?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357744(A;A)
Alt	rs80357744(A;A)
Reference	Rs80357744(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41201192dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112628.3,