rs80357567

minus

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

Make rs80357567(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093647

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357567
dbSNP (old)	rs80357567
ClinGen	rs80357567
ebi	rs80357567
HLI	rs80357567
Exac	rs80357567
Gnomad	rs80357567
Varsome	rs80357567
Map	rs80357567
PheGenI	rs80357567
Biobank	rs80357567
1000 genomes	rs80357567
hgdp	rs80357567
ensembl	rs80357567
gopubmed	rs80357567
geneview	rs80357567
scholar	rs80357567
google	rs80357567
pharmgkb	rs80357567
gwascentral	rs80357567
openSNP	rs80357567
23andMe	rs80357567
23andMe all	rs80357567
SNP Nexus
SNPshot	rs80357567
SNPdbe	rs80357567
MSV3d	rs80357567
GWAS Ctlg	rs80357567

Max Magnitude

6

rs80357567, also known as 2000del4, c.1881_1884delCAGT and p.Val627_Ser628?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357567(-;-)
Alt	rs80357567(-;-)
Reference	Rs80357567(CAGT;CAGT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41245664_41245667delACTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047618.3, RCV000077498.5, RCV000479237.1,