| Variant ID | 15883 |
|---|---|
| Entrez Gene ID | 26011 |
| Gene | TENM4 (GeneCards) |
| Location | hg19 11:80243687-80243687
hg38 11:80532643-80532643 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.80243687 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0005 |
|---|---|
| EIGEN score | -0.43 |
| CADD Raw score (version 1.3) | 0.105535 (Deleterious) |
| FATHMM raw prediction score | 0.06837 (Tolerated) |
| Deleterious probability by DeFine | 0.1275 (Neutral) |
| Entrez Gene ID | 26011 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TENM4 (GeneCards) |
| Number of variants in TENM4 in this database | 23 (view all the variants) |
| Full name | teneurin transmembrane protein 4 |
| Band | 11q14.1 |
| Other IDs | Vega: OTTHUMG00000166770 OMIM: 610084 HGNC: HGNC:29945 Ensembl: ENSG00000149256 |
| Other names | Doc4, ETM5, ODZ4, TNM4, ten-4, Ten-M4 |
| Summary | The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016] |
| Individual ID | 29217584.19 (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; |