rs80357550

Orientation

minus

Stabilized

minus

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

Make rs80357550(GA;GA)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43106501

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357550
dbSNP (classic)	rs80357550
ClinGen	rs80357550
ebi	rs80357550
HLI	rs80357550
Exac	rs80357550
Gnomad	rs80357550
Varsome	rs80357550
LitVar	rs80357550
Map	rs80357550
PheGenI	rs80357550
Biobank	rs80357550
1000 genomes	rs80357550
hgdp	rs80357550
ensembl	rs80357550
geneview	rs80357550
scholar	rs80357550
google	rs80357550
pharmgkb	rs80357550
gwascentral	rs80357550
openSNP	rs80357550
23andMe	rs80357550
SNPshot	rs80357550
SNPdbe	rs80357550
MSV3d	rs80357550
GWAS Ctlg	rs80357550

Max Magnitude

6

rs80357550, also known as 285insGA, c.166_167insGA and p.Lys56?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357550(GA;GA)
Alt	rs80357550(GA;GA)
Reference	Rs80357550(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41258519_41258520dupTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000241013.2,