rs80357709

Orientation

minus

Stabilized

minus

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

Make rs80357709(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104156

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357709
dbSNP (classic)	rs80357709
ClinGen	rs80357709
ebi	rs80357709
HLI	rs80357709
Exac	rs80357709
Gnomad	rs80357709
Varsome	rs80357709
LitVar	rs80357709
Map	rs80357709
PheGenI	rs80357709
Biobank	rs80357709
1000 genomes	rs80357709
hgdp	rs80357709
ensembl	rs80357709
geneview	rs80357709
scholar	rs80357709
google	rs80357709
pharmgkb	rs80357709
gwascentral	rs80357709
openSNP	rs80357709
23andMe	rs80357709
SNPshot	rs80357709
SNPdbe	rs80357709
MSV3d	rs80357709
GWAS Ctlg	rs80357709

Max Magnitude

6

rs80357709, also known as 525insA, c.406_407insA and p.Arg136?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357709(A;A)
Alt	rs80357709(A;A)
Reference	Rs80357709(-;-)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41256174dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048433.3, RCV000112503.3, RCV000484275.1,