| Variant ID | 16958 |
|---|---|
| Entrez Gene ID | 57460 |
| Gene | PPM1H (GeneCards) |
| Location | hg19 12:63406359-63406359
hg38 12:63012579-63012579 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.63406359 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3629 |
| CADD Raw score (version 1.3) | -0.049756 (Deleterious) |
| FATHMM raw prediction score | 0.04763 (Tolerated) |
| Deleterious probability by DeFine | 0.4985 (Neutral) |
| Entrez Gene ID | 57460 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPM1H (GeneCards) |
| Number of variants in PPM1H in this database | 6 (view all the variants) |
| Full name | protein phosphatase, Mg2+/Mn2+ dependent 1H |
| Band | 12q14.1-q14.2 |
| Other IDs | Vega: OTTHUMG00000169990 OMIM: 616016 HGNC: HGNC:18583 Ensembl: ENSG00000111110 |
| Other names | URCC2, ARHCL1, NERPP-2C |
| Summary | None |
| 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; |