rs80357803

Orientation

minus

Stabilized

minus

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

Make rs80357803(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43124033

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357803
dbSNP (classic)	rs80357803
ClinGen	rs80357803
ebi	rs80357803
HLI	rs80357803
Exac	rs80357803
Gnomad	rs80357803
Varsome	rs80357803
LitVar	rs80357803
Map	rs80357803
PheGenI	rs80357803
Biobank	rs80357803
1000 genomes	rs80357803
hgdp	rs80357803
ensembl	rs80357803
geneview	rs80357803
scholar	rs80357803
google	rs80357803
pharmgkb	rs80357803
gwascentral	rs80357803
openSNP	rs80357803
23andMe	rs80357803
SNPshot	rs80357803
SNPdbe	rs80357803
MSV3d	rs80357803
GWAS Ctlg	rs80357803

Merged from

Rs886037968

Max Magnitude

6

rs80357803, also known as 183delT, c.64_64delT and p.Leu22Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357803(-;-)
Alt	rs80357803(-;-)
Reference	Rs80357803(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41276049delA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049079.2, RCV000241026.2,