| Variant ID | 8595 |
|---|---|
| Entrez Gene ID | 57451 |
| Gene | TENM2 (GeneCards) |
| Location | hg19 5:167520906-167520906
hg38 5:168093901-168093901 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.167520906 A>T (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 | 0.0253 |
| CADD Raw score (version 1.3) | -0.202164 (Deleterious) |
| FATHMM raw prediction score | 0.09637 (Tolerated) |
| Deleterious probability by DeFine | 0.5498 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |