| Variant ID | 15706 |
|---|---|
| Entrez Gene ID | 24145 |
| Gene | PANX1 (GeneCards) |
| Location | hg19 11:93932829-93932829
hg38 11:94199663-94199663 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.93932829 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.1955 |
| CADD Raw score (version 1.3) | -0.18225 (Deleterious) |
| FATHMM raw prediction score | 0.1649 (Tolerated) |
| Deleterious probability by DeFine | 0.3851 (Neutral) |
| Entrez Gene ID | 24145 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PANX1 (GeneCards) |
| Number of variants in PANX1 in this database | 6 (view all the variants) |
| Full name | pannexin 1 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167757 OMIM: 608420 HGNC: HGNC:8599 Ensembl: ENSG00000110218 |
| Other names | PX1, MRS1, UNQ2529 |
| Summary | The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (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; |