| Variant ID | 19526 |
|---|---|
| Entrez Gene ID | 10200 |
| Gene | MPHOSPH6 (GeneCards) |
| Location | hg19 16:82313220-82313220
hg38 16:82279615-82279615 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.82313220 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0715 |
| CADD Raw score (version 1.3) | 0.064707 (Deleterious) |
| FATHMM raw prediction score | 0.16981 (Tolerated) |
| Deleterious probability by DeFine | 0.4918 (Neutral) |
| Entrez Gene ID | 10200 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MPHOSPH6 (GeneCards) |
| Number of variants in MPHOSPH6 in this database | 4 (view all the variants) |
| Full name | M-phase phosphoprotein 6 |
| Band | 16q23.3 |
| Other IDs | Vega: OTTHUMG00000137632 OMIM: 605500 HGNC: HGNC:7214 Ensembl: ENSG00000135698 |
| Other names | MPP, MPP6, MPP-6 |
| Summary | None |
| Individual ID | 29217584.10 (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; |