| Variant ID | 7672 |
|---|---|
| Entrez Gene ID | 57451 |
| Gene | TENM2 (GeneCards) |
| Location | hg19 5:167589743-167589743
hg38 5:168162738-168162738 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.167589743 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.2254 |
| CADD Raw score (version 1.3) | 5.738666 (Deleterious) |
| FATHMM raw prediction score | 0.7926 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.942 (Deleterious) |
| MutatioinAssessor score | 3.235 (Deleterious) |
| PROVEAN score | -3.7 (Deleterious) |
| MetaSVM score | -0.318 (Tolerated) |
| MetaLR score | 0.375 (Tolerated) |
| MCAP score | 0.09 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.315 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.194 |
| Deleterious probability by iFish2 | 0.0681 (Neutral) |
| Deleterious probability by DeFine | 0.9445 (Deleterious) |
| Entrez Gene ID | 57451 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TENM2 (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 | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |