rs80357994

minus

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

Make rs80357994(-;-)

Make rs80357994(CATT;CATT)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092512

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357994
dbSNP (classic)	rs80357994
ClinGen	rs80357994
ebi	rs80357994
HLI	rs80357994
Exac	rs80357994
Gnomad	rs80357994
Varsome	rs80357994
LitVar	rs80357994
Map	rs80357994
PheGenI	rs80357994
Biobank	rs80357994
1000 genomes	rs80357994
hgdp	rs80357994
ensembl	rs80357994
geneview	rs80357994
scholar	rs80357994
google	rs80357994
pharmgkb	rs80357994
gwascentral	rs80357994
openSNP	rs80357994
23andMe	rs80357994
SNPshot	rs80357994
SNPdbe	rs80357994
MSV3d	rs80357994
GWAS Ctlg	rs80357994

Status

Merged into rs80357749

Max Magnitude

6

rs80357994, also known as 3135del4, c.3016_3019delCATT and p.His1006_Ser1007?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357994(TTCA;TTCA)
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.41244527_41244530delTGAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048042.2, RCV000111982.5,