| Variant ID | 18872 |
|---|---|
| Entrez Gene ID | 54822 |
| Gene | TRPM7 (GeneCards) |
| Location | hg19 15:50939549-50939549
hg38 15:50647352-50647352 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.50939549 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3617 |
| CADD Raw score (version 1.3) | 0.051199 (Deleterious) |
| FATHMM raw prediction score | 0.08106 (Tolerated) |
| Deleterious probability by DeFine | 0.074 (Neutral) |
| Entrez Gene ID | 54822 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPM7 (GeneCards) |
| Number of variants in TRPM7 in this database | 2 (view all the variants) |
| Full name | transient receptor potential cation channel subfamily M member 7 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172449 OMIM: 605692 HGNC: HGNC:17994 Ensembl: ENSG00000092439 |
| Other names | CHAK, CHAK1, ALSPDC, LTRPC7, LTrpC-7, TRP-PLIK |
| Summary | This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.07 (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; |