rs80357607

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	Normal

Make rs80357607(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093016

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357607
dbSNP (classic)	rs80357607
ClinGen	rs80357607
ebi	rs80357607
HLI	rs80357607
Exac	rs80357607
Gnomad	rs80357607
Varsome	rs80357607
LitVar	rs80357607
Map	rs80357607
PheGenI	rs80357607
Biobank	rs80357607
1000 genomes	rs80357607
hgdp	rs80357607
ensembl	rs80357607
geneview	rs80357607
scholar	rs80357607
google	rs80357607
pharmgkb	rs80357607
gwascentral	rs80357607
openSNP	rs80357607
23andMe	rs80357607
SNPshot	rs80357607
SNPdbe	rs80357607
MSV3d	rs80357607
GWAS Ctlg	rs80357607

Max Magnitude

6

rs80357607, also known as 2634delC, c.2515_2515delC and p.His839Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357607(-;-)
Alt	rs80357607(-;-)
Reference	Rs80357607(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245033delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031055.7, RCV000047864.2, RCV000131999.3, RCV000236698.1,