rs80357625

minus

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

Make rs80357625(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092276

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357625
dbSNP (classic)	rs80357625
ClinGen	rs80357625
ebi	rs80357625
HLI	rs80357625
Exac	rs80357625
Gnomad	rs80357625
Varsome	rs80357625
LitVar	rs80357625
Map	rs80357625
PheGenI	rs80357625
Biobank	rs80357625
1000 genomes	rs80357625
hgdp	rs80357625
ensembl	rs80357625
geneview	rs80357625
scholar	rs80357625
google	rs80357625
pharmgkb	rs80357625
gwascentral	rs80357625
openSNP	rs80357625
23andMe	rs80357625
SNPshot	rs80357625
SNPdbe	rs80357625
MSV3d	rs80357625
GWAS Ctlg	rs80357625

Max Magnitude

6

rs80357625, also known as 3373insA, c.3254_3255insA and p.Arg1085?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357625(A;A)
Alt	rs80357625(A;A)
Reference	Rs80357625(-;-)
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.41244293dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048111.2, RCV000112035.2,