rs80357678

minus

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

Make rs80357678(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091614

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357678
dbSNP (classic)	rs80357678
ClinGen	rs80357678
ebi	rs80357678
HLI	rs80357678
Exac	rs80357678
Gnomad	rs80357678
Varsome	rs80357678
LitVar	rs80357678
Map	rs80357678
PheGenI	rs80357678
Biobank	rs80357678
1000 genomes	rs80357678
hgdp	rs80357678
ensembl	rs80357678
geneview	rs80357678
scholar	rs80357678
google	rs80357678
pharmgkb	rs80357678
gwascentral	rs80357678
openSNP	rs80357678
23andMe	rs80357678
SNPshot	rs80357678
SNPdbe	rs80357678
MSV3d	rs80357678
GWAS Ctlg	rs80357678

Max Magnitude

6

rs80357678, also known as 4035delTT, c.3916_3917delTT and p.Leu1306Aspfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357678(-;-)
Alt	rs80357678(-;-)
Reference	Rs80357678(TT;TT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243631_41243632delAA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048379.3, RCV000083200.5,