rs273899705

minus

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

Make rs273899705(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092188

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273899705
dbSNP (old)	rs273899705
ClinGen	rs273899705
ebi	rs273899705
HLI	rs273899705
Exac	rs273899705
Varsome	rs273899705
Map	rs273899705
PheGenI	rs273899705
Biobank	rs273899705
1000 genomes	rs273899705
hgdp	rs273899705
ensembl	rs273899705
gopubmed	rs273899705
geneview	rs273899705
scholar	rs273899705
google	rs273899705
pharmgkb	rs273899705
gwascentral	rs273899705
openSNP	rs273899705
23andMe	rs273899705
23andMe all	rs273899705
SNP Nexus
SNPshot	rs273899705
SNPdbe	rs273899705
MSV3d	rs273899705
GWAS Ctlg	rs273899705

Max Magnitude

6

rs273899705, also known as 3462delG, c.3343_3343delG and p.Glu1115Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273899705(-;-)
Alt	rs273899705(-;-)
Reference	Rs273899705(G;G)
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.41244205delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048157.2, RCV000112074.3,