rs80357934

minus

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

Make rs80357934(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43047692

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357934
dbSNP (classic)	rs80357934
ClinGen	rs80357934
ebi	rs80357934
HLI	rs80357934
Exac	rs80357934
Gnomad	rs80357934
Varsome	rs80357934
LitVar	rs80357934
Map	rs80357934
PheGenI	rs80357934
Biobank	rs80357934
1000 genomes	rs80357934
hgdp	rs80357934
ensembl	rs80357934
geneview	rs80357934
scholar	rs80357934
google	rs80357934
pharmgkb	rs80357934
gwascentral	rs80357934
openSNP	rs80357934
23andMe	rs80357934
SNPshot	rs80357934
SNPdbe	rs80357934
MSV3d	rs80357934
GWAS Ctlg	rs80357934

Merged from

Rs397509282

Max Magnitude

6

rs80357934, also known as 5537delA, c.5418_5418delA and p.Pro1806=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357934(-;-)
Alt	rs80357934(-;-)
Reference	Rs80357934(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41199708delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048986.2, RCV000112649.3,