rs80357604

Orientation

minus

Stabilized

minus

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

Make rs80357604(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104233

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357604
dbSNP (classic)	rs80357604
ClinGen	rs80357604
ebi	rs80357604
HLI	rs80357604
Exac	rs80357604
Gnomad	rs80357604
Varsome	rs80357604
LitVar	rs80357604
Map	rs80357604
PheGenI	rs80357604
Biobank	rs80357604
1000 genomes	rs80357604
hgdp	rs80357604
ensembl	rs80357604
geneview	rs80357604
scholar	rs80357604
google	rs80357604
pharmgkb	rs80357604
gwascentral	rs80357604
openSNP	rs80357604
23andMe	rs80357604
SNPshot	rs80357604
SNPdbe	rs80357604
MSV3d	rs80357604
GWAS Ctlg	rs80357604

Max Magnitude

6

rs80357604, also known as 448insA, c.329_330insA and p.Lys110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357604(A;A)
Alt	rs80357604(A;A)
Reference	Rs80357604(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41256251dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031101.7, RCV000048132.5, RCV000195362.2, RCV000239071.1,