| Variant ID | 7222 |
|---|---|
| Entrez Gene ID | 441027 |
| Gene | TMEM150C (GeneCards) |
| Location | hg19 4:83503706-83503706
hg38 4:82582553-82582553 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.83503706 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3496 |
| CADD Raw score (version 1.3) | 0.302727 (Deleterious) |
| FATHMM raw prediction score | 0.05402 (Tolerated) |
| Deleterious probability by DeFine | 0.2579 (Neutral) |
| Entrez Gene ID | 441027 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM150C (GeneCards) |
| Number of variants in TMEM150C in this database | 3 (view all the variants) |
| Full name | transmembrane protein 150C |
| Band | 4q21.22 |
| Other IDs | Vega: OTTHUMG00000161083 OMIM: 617292 HGNC: HGNC:37263 Ensembl: ENSG00000249242 |
| Other names | TTN3 |
| Summary | This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017] |
| 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; |