Overview

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)

Other information

Exon or Intron intron
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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
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 #1

Individual ID 24760347.01 (view all the variants in this individual)
Pubmed ID 24760347
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 24760347

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;