rs80357768

minus

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

Make rs80357768(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093637

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357768
dbSNP (classic)	rs80357768
ClinGen	rs80357768
ebi	rs80357768
HLI	rs80357768
Exac	rs80357768
Gnomad	rs80357768
Varsome	rs80357768
LitVar	rs80357768
Map	rs80357768
PheGenI	rs80357768
Biobank	rs80357768
1000 genomes	rs80357768
hgdp	rs80357768
ensembl	rs80357768
geneview	rs80357768
scholar	rs80357768
google	rs80357768
pharmgkb	rs80357768
gwascentral	rs80357768
openSNP	rs80357768
23andMe	rs80357768
SNPshot	rs80357768
SNPdbe	rs80357768
MSV3d	rs80357768
GWAS Ctlg	rs80357768

Max Magnitude

6

rs80357768, also known as 2012insT, c.1893_1894insT and p.Leu631_Ser632?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357768(T;T)
Alt	rs80357768(T;T)
Reference	Rs80357768(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245654_41245655insA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111723.3,