rs80357649

minus

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

Make rs80357649(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082565

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357649
ClinGen	rs80357649
ebi	rs80357649
HLI	rs80357649
Exac	rs80357649
Varsome	rs80357649
Map	rs80357649
PheGenI	rs80357649
hapmap	rs80357649
1000 genomes	rs80357649
hgdp	rs80357649
ensembl	rs80357649
gopubmed	rs80357649
geneview	rs80357649
scholar	rs80357649
google	rs80357649
pharmgkb	rs80357649
gwascentral	rs80357649
openSNP	rs80357649
23andMe	rs80357649
23andMe all	rs80357649
SNP Nexus
SNPshot	rs80357649
SNPdbe	rs80357649
MSV3d	rs80357649
GWAS Ctlg	rs80357649

Max Magnitude

6

rs80357649, also known as 4314delAC, c.4195_4196delAC and p.Thr1399Hisfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357649(-;-)
Alt	rs80357649(-;-)
Reference	Rs80357649(AC;AC)
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.41234582_41234583delGT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048482.2, RCV000112292.3,