rs80357838

minus

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

Make rs80357838(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43049143

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357838
dbSNP (classic)	rs80357838
ClinGen	rs80357838
ebi	rs80357838
HLI	rs80357838
Exac	rs80357838
Gnomad	rs80357838
Varsome	rs80357838
LitVar	rs80357838
Map	rs80357838
PheGenI	rs80357838
Biobank	rs80357838
1000 genomes	rs80357838
hgdp	rs80357838
ensembl	rs80357838
geneview	rs80357838
scholar	rs80357838
google	rs80357838
pharmgkb	rs80357838
gwascentral	rs80357838
openSNP	rs80357838
23andMe	rs80357838
SNPshot	rs80357838
SNPdbe	rs80357838
MSV3d	rs80357838
GWAS Ctlg	rs80357838

Merged from

Rs397509276, Rs606231395

Max Magnitude

6

rs80357838, also known as 5502insT, c.5383_5384insT and p.Leu1795?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357838(T;T)
Alt	rs80357838(T;T)
Reference	Rs80357838(-;-)
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.41201158dupA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048969.2, RCV000112631.2,