rs80357712

minus

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

Make rs80357712(-;-)

Make rs80357712(AAATC;AAATC)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092803

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357712
ClinGen	rs80357712
ebi	rs80357712
HLI	rs80357712
Exac	rs80357712
Varsome	rs80357712
Map	rs80357712
PheGenI	rs80357712
hapmap	rs80357712
1000 genomes	rs80357712
hgdp	rs80357712
ensembl	rs80357712
gopubmed	rs80357712
geneview	rs80357712
scholar	rs80357712
google	rs80357712
pharmgkb	rs80357712
gwascentral	rs80357712
openSNP	rs80357712
23andMe	rs80357712
23andMe all	rs80357712
SNP Nexus
SNPshot	rs80357712
SNPdbe	rs80357712
MSV3d	rs80357712
GWAS Ctlg	rs80357712

Max Magnitude

6

rs80357712, also known as 2843del5, c.2724_2728delAAATC and p.Glu908_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357712(ATCAA;ATCAA)
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.41244818_41244822delTTGAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047945.2, RCV000111923.3,