rs80357809

minus

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

Make rs80357809(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094265

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357809
dbSNP (classic)	rs80357809
ClinGen	rs80357809
ebi	rs80357809
HLI	rs80357809
Exac	rs80357809
Gnomad	rs80357809
Varsome	rs80357809
LitVar	rs80357809
Map	rs80357809
PheGenI	rs80357809
Biobank	rs80357809
1000 genomes	rs80357809
hgdp	rs80357809
ensembl	rs80357809
geneview	rs80357809
scholar	rs80357809
google	rs80357809
pharmgkb	rs80357809
gwascentral	rs80357809
openSNP	rs80357809
23andMe	rs80357809
SNPshot	rs80357809
SNPdbe	rs80357809
MSV3d	rs80357809
GWAS Ctlg	rs80357809

Max Magnitude

6

rs80357809, also known as 1384insA, c.1265_1266insA and p.Tyr422?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357809(A;A)
Alt	rs80357809(A;A)
Reference	Rs80357809(-;-)
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.41246283dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047400.2, RCV000111577.2,