| Variant ID | 19965 |
|---|---|
| Entrez Gene ID | 83394 |
| Gene | PITPNM3 (GeneCards) |
| Location | hg19 17:6404699-6404699
hg38 17:6501379-6501379 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.6404699 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3326 |
| CADD Raw score (version 1.3) | 0.028766 (Deleterious) |
| FATHMM raw prediction score | 0.05697 (Tolerated) |
| Deleterious probability by DeFine | 0.5739 (Deleterious) |
| Entrez Gene ID | 83394 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PITPNM3 (GeneCards) |
| Number of variants in PITPNM3 in this database | 4 (view all the variants) |
| Full name | PITPNM family member 3 |
| Band | 17p13.2-p13.1 |
| Other IDs | Vega: OTTHUMG00000102039 OMIM: 608921 HGNC: HGNC:21043 Ensembl: ENSG00000091622 |
| Other names | NIR1, ACKR6, CORD5, RDGBA3 |
| Summary | This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.10 (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; |