| Variant ID | 15895 |
|---|---|
| Entrez Gene ID | 744 |
| Gene | MPPED2 (GeneCards) |
| Location | hg19 11:30552740-30552740
hg38 11:30531193-30531193 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.30552740 G>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.138 |
| CADD Raw score (version 1.3) | -0.381704 (Deleterious) |
| FATHMM raw prediction score | 0.13696 (Tolerated) |
| Deleterious probability by DeFine | 0.383 (Neutral) |
| Entrez Gene ID | 744 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MPPED2 (GeneCards) |
| Number of variants in MPPED2 in this database | 14 (view all the variants) |
| Full name | metallophosphoesterase domain containing 2 |
| Band | 11p14.1 |
| Other IDs | Vega: OTTHUMG00000166159 OMIM: 600911 HGNC: HGNC:1180 Ensembl: ENSG00000066382 |
| Other names | 239FB, C11orf8 |
| Summary | This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] |
| 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; |