rs80357749

minus

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

Make rs80357749(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092510

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357749
dbSNP (classic)	rs80357749
ClinGen	rs80357749
ebi	rs80357749
HLI	rs80357749
Exac	rs80357749
Gnomad	rs80357749
Varsome	rs80357749
LitVar	rs80357749
Map	rs80357749
PheGenI	rs80357749
Biobank	rs80357749
1000 genomes	rs80357749
hgdp	rs80357749
ensembl	rs80357749
geneview	rs80357749
scholar	rs80357749
google	rs80357749
pharmgkb	rs80357749
gwascentral	rs80357749
openSNP	rs80357749
23andMe	rs80357749
SNPshot	rs80357749
SNPdbe	rs80357749
MSV3d	rs80357749
GWAS Ctlg	rs80357749

Merged from

Rs80357994

Max Magnitude

6

rs80357749, also known as 3137delTTCA, c.3018_3021delTTCA and p.His1006_Ser1007?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357749(CATT;CATT) rs80357749(-;-)
Alt	rs80357749(CATT;CATT) rs80357749(-;-)
Reference	Rs80357749(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, RCV000111982.6,