| Variant ID | 22102 |
|---|---|
| Entrez Gene ID | 10178 |
| Gene | TENM1 (GeneCards) |
| Location | hg19 X:124147342-124147342
hg38 X:125013493-125013493 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.124147342 T>C (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.932703 (Deleterious) |
| FATHMM raw prediction score | 0.6746 (Tolerated) |
| Deleterious probability by DeFine | 0.8242 (Deleterious) |
| Entrez Gene ID | 10178 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TENM1 (GeneCards) |
| Number of variants in TENM1 in this database | 5 (view all the variants) |
| Full name | teneurin transmembrane protein 1 |
| Band | Xq25 |
| Other IDs | Vega: OTTHUMG00000022721 OMIM: 300588 HGNC: HGNC:8117 Ensembl: ENSG00000009694 |
| Other names | TNM, ODZ1, ODZ3, TNM1, TEN-M1 |
| Summary | The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.08 (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; |