| Variant ID | 27199 |
|---|---|
| Entrez Gene ID | 744 |
| Gene | MPPED2 (GeneCards) |
| Location | hg19 11:30605192-30605192
hg38 11:30583645-30583645 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.30605192 T>A (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 | 0.7276 |
| CADD Raw score (version 1.3) | 1.779427 (Deleterious) |
| FATHMM raw prediction score | 0.3248 (Tolerated) |
| Deleterious probability by DeFine | 0.7099 (Deleterious) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |