rs80357575

minus

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

Make rs80357575(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092202

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357575
ClinGen	rs80357575
ebi	rs80357575
HLI	rs80357575
Exac	rs80357575
Varsome	rs80357575
Map	rs80357575
PheGenI	rs80357575
hapmap	rs80357575
1000 genomes	rs80357575
hgdp	rs80357575
ensembl	rs80357575
gopubmed	rs80357575
geneview	rs80357575
scholar	rs80357575
google	rs80357575
pharmgkb	rs80357575
gwascentral	rs80357575
openSNP	rs80357575
23andMe	rs80357575
23andMe all	rs80357575
SNP Nexus
SNPshot	rs80357575
SNPdbe	rs80357575
MSV3d	rs80357575
GWAS Ctlg	rs80357575

Max Magnitude

6

rs80357575, also known as 3445del4, c.3326_3329delAAAA and p.Lys1109_Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357575(-;-)
Alt	rs80357575(-;-)
Reference	Rs80357575(AAAA;AAAA)
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.41244219_41244222delTTTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048144.2, RCV000112062.3,