| Variant ID | 8912 |
|---|---|
| Entrez Gene ID | 3617 |
| Gene | IMPG1 (GeneCards) |
| Location | hg19 6:78079160-78079160
hg38 6:77369443-77369443 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.78079160 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6016 |
| CADD Raw score (version 1.3) | -0.082521 (Deleterious) |
| FATHMM raw prediction score | 0.08305 (Tolerated) |
| Deleterious probability by DeFine | 0.4493 (Neutral) |
| Entrez Gene ID | 3617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IMPG1 (GeneCards) |
| Number of variants in IMPG1 in this database | 24 (view all the variants) |
| Full name | interphotoreceptor matrix proteoglycan 1 |
| Band | 6q14.1 |
| Other IDs | Vega: OTTHUMG00000015063 OMIM: 602870 HGNC: HGNC:6055 Ensembl: ENSG00000112706 |
| Other names | VMD4, GP147, SPACR, IPM150 |
| Summary | This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| Individual ID | 29217584.01 (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; |