| Variant ID | 19489 |
|---|---|
| Entrez Gene ID | 114780 |
| Gene | PKD1L2 (GeneCards) |
| Location | hg19 16:81254038-81254038
hg38 16:81220433-81220433 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.81254038 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.275 |
| CADD Raw score (version 1.3) | 0.449207 (Deleterious) |
| FATHMM raw prediction score | 0.28759 (Tolerated) |
| Deleterious probability by DeFine | 0.8196 (Deleterious) |
| Entrez Gene ID | 114780 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PKD1L2 (GeneCards) |
| Number of variants in PKD1L2 in this database | 3 (view all the variants) |
| Full name | polycystin 1 like 2 (gene/pseudogene) |
| Band | 16q23.2 |
| Other IDs | Vega: OTTHUMG00000166126 OMIM: 607894 HGNC: HGNC:21715 Ensembl: ENSG00000166473 |
| Other names | PC1L2 |
| Summary | This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
| Individual ID | 29217584.09 (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; |