rs80357949

minus

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

Make rs80357949(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43115747

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357949
dbSNP (classic)	rs80357949
ClinGen	rs80357949
ebi	rs80357949
HLI	rs80357949
Exac	rs80357949
Gnomad	rs80357949
Varsome	rs80357949
LitVar	rs80357949
Map	rs80357949
PheGenI	rs80357949
Biobank	rs80357949
1000 genomes	rs80357949
hgdp	rs80357949
ensembl	rs80357949
geneview	rs80357949
scholar	rs80357949
google	rs80357949
pharmgkb	rs80357949
gwascentral	rs80357949
openSNP	rs80357949
23andMe	rs80357949
SNPshot	rs80357949
SNPdbe	rs80357949
MSV3d	rs80357949
GWAS Ctlg	rs80357949

Max Magnitude

6

rs80357949, also known as 231delAA, c.112_113delAA and p.Lys38Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357949(-;-)
Alt	rs80357949(-;-)
Reference	Rs80357949(AA;AA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41267764_41267765delTT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047355.3, RCV000111790.3,