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rs80357515

From SNPedia

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


Make rs80357515(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093193
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357515
ebirs80357515
HLIrs80357515
Exacrs80357515
Varsomers80357515
Maprs80357515
PheGenIrs80357515
hapmaprs80357515
1000 genomesrs80357515
hgdprs80357515
ensemblrs80357515
gopubmedrs80357515
geneviewrs80357515
scholarrs80357515
googlers80357515
pharmgkbrs80357515
gwascentralrs80357515
openSNPrs80357515
23andMers80357515
23andMe allrs80357515
SNP Nexus

SNPshotrs80357515
SNPdbers80357515
MSV3drs80357515
GWAS Ctlgrs80357515
Max Magnitude6
rs80357515, also known as 2456delTC, c.2337_2338delTC and p.Thr779_Gln780ThrGlyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357515(;)
Alt rs80357515(;)
Reference rs80357515(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245210_41245211delGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111828.1,