rs80357750

Orientation

minus

Stabilized

minus

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

Make rs80357750(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43115759

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357750
dbSNP (classic)	rs80357750
ClinGen	rs80357750
ebi	rs80357750
HLI	rs80357750
Exac	rs80357750
Gnomad	rs80357750
Varsome	rs80357750
LitVar	rs80357750
Map	rs80357750
PheGenI	rs80357750
Biobank	rs80357750
1000 genomes	rs80357750
hgdp	rs80357750
ensembl	rs80357750
geneview	rs80357750
scholar	rs80357750
google	rs80357750
pharmgkb	rs80357750
gwascentral	rs80357750
openSNP	rs80357750
23andMe	rs80357750
SNPshot	rs80357750
SNPdbe	rs80357750
MSV3d	rs80357750
GWAS Ctlg	rs80357750

Max Magnitude

6

rs80357750, also known as 220delC, c.101_101delC and p.Pro34Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357750(-;-)
Alt	rs80357750(-;-)
Reference	Rs80357750(C;C)
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.41267776delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047312.2, RCV000111768.2,