rs80357690

minus

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

Make rs80357690(TG;TG)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43094577

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357690
dbSNP (classic)	rs80357690
ClinGen	rs80357690
ebi	rs80357690
HLI	rs80357690
Exac	rs80357690
Gnomad	rs80357690
Varsome	rs80357690
LitVar	rs80357690
Map	rs80357690
PheGenI	rs80357690
Biobank	rs80357690
1000 genomes	rs80357690
hgdp	rs80357690
ensembl	rs80357690
geneview	rs80357690
scholar	rs80357690
google	rs80357690
pharmgkb	rs80357690
gwascentral	rs80357690
openSNP	rs80357690
23andMe	rs80357690
SNPshot	rs80357690
SNPdbe	rs80357690
MSV3d	rs80357690
GWAS Ctlg	rs80357690

Merged from

Rs886037983

Max Magnitude

6

rs80357690, also known as 1072delAins3, c.953_954insTG and p.His318?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357690(TG;TG) rs80357690(GT;GT)
Alt	rs80357690(TG;TG) rs80357690(GT;GT)
Reference	Rs80357690(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246593_41246594insAC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000241087.2,