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rs80359879

From SNPedia

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


Make rs80359879(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104888
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359879
ebirs80359879
HLIrs80359879
Exacrs80359879
Varsomers80359879
Maprs80359879
PheGenIrs80359879
hapmaprs80359879
1000 genomesrs80359879
hgdprs80359879
ensemblrs80359879
gopubmedrs80359879
geneviewrs80359879
scholarrs80359879
googlers80359879
pharmgkbrs80359879
gwascentralrs80359879
openSNPrs80359879
23andMers80359879
23andMe allrs80359879
SNP Nexus

SNPshotrs80359879
SNPdbers80359879
MSV3drs80359879
GWAS Ctlgrs80359879
Max Magnitude6
rs80359879, also known as 388del13, c.269_281del and p.Ile90_Gln94?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359879(;)
Alt rs80359879(;)
Reference rs80359879(TTTGTGCTTTTCA;TTTGTGCTTTTCA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41256905_41256917delTGAAAAGCACAAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047937.2, RCV000112179.1,