| Variant ID | 12698 |
|---|---|
| Entrez Gene ID | 54928 |
| Gene | IMPAD1 (GeneCards) |
| Location | hg19 8:57997004-57997004
hg38 8:57084445-57084445 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.57997004 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0859 |
| CADD Raw score (version 1.3) | 0.602384 (Deleterious) |
| FATHMM raw prediction score | 0.33243 (Tolerated) |
| Deleterious probability by DeFine | 0.0499 (Neutral) |
| Entrez Gene ID | 54928 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IMPAD1 (GeneCards) |
| Number of variants in IMPAD1 in this database | 4 (view all the variants) |
| Full name | inositol monophosphatase domain containing 1 |
| Band | 8q12.1 |
| Other IDs | Vega: OTTHUMG00000164415 OMIM: 614010 HGNC: HGNC:26019 Ensembl: ENSG00000104331 |
| Other names | GPAPP, IMP3, IMP-3, IMPA3 |
| Summary | This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] |
| 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; |