Variant ID | 34391 |
---|---|
Entrez Gene ID | 57451 |
Gene | ODZ2 (GeneCards) |
Location | hg19 5:167034586-167034586
hg38 5:167607581-167607581 |
Disease | Asymptomatic |
Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
Mutation(HGVS format) | NC_000005.9:g.167034586 C>T (Genome Assembly: hg19) |
Exon or Intron | intron |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 180915260 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.1043 |
CADD Raw score (version 1.3) | 0.135123 (Deleterious) |
FATHMM raw prediction score | 0.08037 (Tolerated) |
Deleterious probability by DeFine | 0.6025 (Deleterious) |
Entrez Gene ID | 57451 (NCBI Gene) |
---|---|
Official Gene Symbol | ODZ2 (GeneCards) |
Number of variants in TENM2 in this database | 13 (view all the variants) |
Full name | teneurin transmembrane protein 2 |
Band | 5q34 |
Other IDs | Vega: OTTHUMG00000162928 OMIM: 610119 HGNC: HGNC:29943 Ensembl: ENSG00000145934 |
Other names | ODZ2, TNM2, ten-2, TEN-M2 |
Summary | None |
Individual ID | 24760347.01 (view all the variants in this individual) |
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Pubmed ID | 24760347 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 24760347 |
---|---|
Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
Journal | Genome Research |
Publication date | 2014.04 |
Disease | Asymptomatic |
Number of cases | Female cases: 1; |