| Variant ID | 6035 |
|---|---|
| Entrez Gene ID | 8821 |
| Gene | INPP4B (GeneCards) |
| Location | hg19 4:143900592-143900592
hg38 4:142979439-142979439 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.143900592 G>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0603 |
| CADD Raw score (version 1.3) | -0.11943 (Deleterious) |
| FATHMM raw prediction score | 0.14328 (Tolerated) |
| Deleterious probability by DeFine | 0.3817 (Neutral) |
| Entrez Gene ID | 8821 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INPP4B (GeneCards) |
| Number of variants in INPP4B in this database | 7 (view all the variants) |
| Full name | inositol polyphosphate-4-phosphatase type II B |
| Band | 4q31.21 |
| Other IDs | Vega: OTTHUMG00000161341 OMIM: 607494 HGNC: HGNC:6075 Ensembl: ENSG00000109452 |
| Other names | None |
| Summary | INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |