| Variant ID | 6358 |
|---|---|
| Entrez Gene ID | 5311 |
| Gene | PKD2 (GeneCards) |
| Location | hg19 4:88956372-88956372
hg38 4:88035220-88035220 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.88956372 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0266 |
| CADD Raw score (version 1.3) | 0.284799 (Deleterious) |
| FATHMM raw prediction score | 0.16862 (Tolerated) |
| Deleterious probability by DeFine | 0.2768 (Neutral) |
| Entrez Gene ID | 5311 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PKD2 (GeneCards) |
| Number of variants in PKD2 in this database | 2 (view all the variants) |
| Full name | polycystin 2, transient receptor potential cation channel |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000160982 OMIM: 173910 HGNC: HGNC:9009 Ensembl: ENSG00000118762 |
| Other names | PC2, PKD4, Pc-2, APKD2, TRPP2 |
| Summary | This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] |
| Individual ID | 29217584.08 (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; |