rs80357852

minus

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

Make rs80357852(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057099

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357852
dbSNP (classic)	rs80357852
ClinGen	rs80357852
ebi	rs80357852
HLI	rs80357852
Exac	rs80357852
Gnomad	rs80357852
Varsome	rs80357852
LitVar	rs80357852
Map	rs80357852
PheGenI	rs80357852
Biobank	rs80357852
1000 genomes	rs80357852
hgdp	rs80357852
ensembl	rs80357852
geneview	rs80357852
scholar	rs80357852
google	rs80357852
pharmgkb	rs80357852
gwascentral	rs80357852
openSNP	rs80357852
23andMe	rs80357852
SNPshot	rs80357852
SNPdbe	rs80357852
MSV3d	rs80357852
GWAS Ctlg	rs80357852

Max Magnitude

6

rs80357852, also known as 5348delAA, c.5229_5230delAA and p.Gly1743_Arg1744GlyLysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357852(-;-)
Alt	rs80357852(-;-)
Reference	Rs80357852(AA;AA)
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.41209116_41209117delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048871.2, RCV000112572.2,