rs80357801

minus

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

Make rs80357801(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094084

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357801
dbSNP (classic)	rs80357801
ClinGen	rs80357801
ebi	rs80357801
HLI	rs80357801
Exac	rs80357801
Gnomad	rs80357801
Varsome	rs80357801
LitVar	rs80357801
Map	rs80357801
PheGenI	rs80357801
Biobank	rs80357801
1000 genomes	rs80357801
hgdp	rs80357801
ensembl	rs80357801
geneview	rs80357801
scholar	rs80357801
google	rs80357801
pharmgkb	rs80357801
gwascentral	rs80357801
openSNP	rs80357801
23andMe	rs80357801
SNPshot	rs80357801
SNPdbe	rs80357801
MSV3d	rs80357801
GWAS Ctlg	rs80357801

Max Magnitude

6

rs80357801, also known as 1563del4, c.1444_1447delATTA and p.Ile482_Ile483?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357801(-;-)
Alt	rs80357801(-;-)
Reference	Rs80357801(ATTA;ATTA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41246101_41246104delTAAT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000030994.6, RCV000047476.3,