rs80357778

minus

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

Make rs80357778(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094090

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357778
dbSNP (classic)	rs80357778
ClinGen	rs80357778
ebi	rs80357778
HLI	rs80357778
Exac	rs80357778
Gnomad	rs80357778
Varsome	rs80357778
LitVar	rs80357778
Map	rs80357778
PheGenI	rs80357778
Biobank	rs80357778
1000 genomes	rs80357778
hgdp	rs80357778
ensembl	rs80357778
geneview	rs80357778
scholar	rs80357778
google	rs80357778
pharmgkb	rs80357778
gwascentral	rs80357778
openSNP	rs80357778
23andMe	rs80357778
SNPshot	rs80357778
SNPdbe	rs80357778
MSV3d	rs80357778
GWAS Ctlg	rs80357778

Max Magnitude

6

rs80357778, also known as 1559insA, c.1440_1441insA and p.Asn480_Leu481?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357778(A;A)
Alt	rs80357778(A;A)
Reference	Rs80357778(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246107_41246108insT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000111617.3,