| Variant ID | 22115 |
|---|---|
| Entrez Gene ID | 55613 |
| Gene | MTMR8 (GeneCards) |
| Location | hg19 X:64041016-64041016
hg38 X:64821136-64821136 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.64041016 A>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) | -0.00718 (Deleterious) |
| FATHMM raw prediction score | 0.07118 (Tolerated) |
| Deleterious probability by DeFine | 0.1097 (Neutral) |
| Entrez Gene ID | 55613 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTMR8 (GeneCards) |
| Number of variants in MTMR8 in this database | 5 (view all the variants) |
| Full name | myotubularin related protein 8 |
| Band | Xq11.2 |
| Other IDs | Vega: OTTHUMG00000021707 HGNC: HGNC:16825 Ensembl: ENSG00000102043 |
| Other names | None |
| Summary | This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010] |
| 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; |