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rs80357678

From SNPedia

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


Make rs80357678(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091614
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357678
ebirs80357678
HLIrs80357678
Exacrs80357678
Varsomers80357678
Maprs80357678
PheGenIrs80357678
hapmaprs80357678
1000 genomesrs80357678
hgdprs80357678
ensemblrs80357678
gopubmedrs80357678
geneviewrs80357678
scholarrs80357678
googlers80357678
pharmgkbrs80357678
gwascentralrs80357678
openSNPrs80357678
23andMers80357678
23andMe allrs80357678
SNP Nexus

SNPshotrs80357678
SNPdbers80357678
MSV3drs80357678
GWAS Ctlgrs80357678
Max Magnitude6
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, RCV000083200.3,