rs80357996

minus

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

Make rs80357996(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092200

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357996
dbSNP (classic)	rs80357996
ClinGen	rs80357996
ebi	rs80357996
HLI	rs80357996
Exac	rs80357996
Gnomad	rs80357996
Varsome	rs80357996
LitVar	rs80357996
Map	rs80357996
PheGenI	rs80357996
Biobank	rs80357996
1000 genomes	rs80357996
hgdp	rs80357996
ensembl	rs80357996
geneview	rs80357996
scholar	rs80357996
google	rs80357996
pharmgkb	rs80357996
gwascentral	rs80357996
openSNP	rs80357996
23andMe	rs80357996
SNPshot	rs80357996
SNPdbe	rs80357996
MSV3d	rs80357996
GWAS Ctlg	rs80357996

Max Magnitude

6

rs80357996, also known as 3449insA, c.3330_3331insA and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357996(A;A)
Alt	rs80357996(A;A)
Reference	Rs80357996(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244217_41244218insT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000112069.2,