| Variant ID | 13685 |
|---|---|
| Entrez Gene ID | 80036 |
| Gene | TRPM3 (GeneCards) |
| Location | hg19 9:73295972-73295972
hg38 9:70681056-70681056 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.73295972 C>A (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1868 |
| CADD Raw score (version 1.3) | -0.13781 (Deleterious) |
| FATHMM raw prediction score | 0.12624 (Tolerated) |
| Deleterious probability by DeFine | 0.373 (Neutral) |
| Entrez Gene ID | 80036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPM3 (GeneCards) |
| Number of variants in TRPM3 in this database | 15 (view all the variants) |
| Full name | transient receptor potential cation channel subfamily M member 3 |
| Band | 9q21.12-q21.13 |
| Other IDs | Vega: OTTHUMG00000019997 OMIM: 608961 HGNC: HGNC:17992 Ensembl: ENSG00000083067 |
| Other names | GON-2, MLSN2, LTRPC3 |
| Summary | The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
| 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; |