rs80357516

minus

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

Make rs80357516(TAGT;TAGT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093653

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357516
dbSNP (classic)	rs80357516
ClinGen	rs80357516
ebi	rs80357516
HLI	rs80357516
Exac	rs80357516
Gnomad	rs80357516
Varsome	rs80357516
LitVar	rs80357516
Map	rs80357516
PheGenI	rs80357516
Biobank	rs80357516
1000 genomes	rs80357516
hgdp	rs80357516
ensembl	rs80357516
geneview	rs80357516
scholar	rs80357516
google	rs80357516
pharmgkb	rs80357516
gwascentral	rs80357516
openSNP	rs80357516
23andMe	rs80357516
SNPshot	rs80357516
SNPdbe	rs80357516
MSV3d	rs80357516
GWAS Ctlg	rs80357516

Max Magnitude

6

rs80357516, also known as 1996ins4, c.1877_1878insTAGT and p.Val626?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357516(TAGT;TAGT)
Alt	rs80357516(TAGT;TAGT)
Reference	Rs80357516(;)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41245671_41245674dupACTA
CLNSRC
CLNACC	RCV000047615.2,