rs80357570

minus

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

Make rs80357570(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094207

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357570
dbSNP (classic)	rs80357570
ClinGen	rs80357570
ebi	rs80357570
HLI	rs80357570
Exac	rs80357570
Gnomad	rs80357570
Varsome	rs80357570
LitVar	rs80357570
Map	rs80357570
PheGenI	rs80357570
Biobank	rs80357570
1000 genomes	rs80357570
hgdp	rs80357570
ensembl	rs80357570
geneview	rs80357570
scholar	rs80357570
google	rs80357570
pharmgkb	rs80357570
gwascentral	rs80357570
openSNP	rs80357570
23andMe	rs80357570
SNPshot	rs80357570
SNPdbe	rs80357570
MSV3d	rs80357570
GWAS Ctlg	rs80357570

Max Magnitude

6

rs80357570, also known as 1442delAT, c.1323_1324delAT and p.Ile441_Cys442MetTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357570(-;-)
Alt	rs80357570(-;-)
Reference	Rs80357570(AT;AT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41246224_41246225delAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047419.2, RCV000083169.5, RCV000480033.1,