| Variant ID | 10409 |
|---|---|
| Entrez Gene ID | 168507 |
| Gene | PKD1L1 (GeneCards) |
| Location | hg19 7:47913455-47913455
hg38 7:47873857-47873857 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.47913455 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3253 |
| CADD Raw score (version 1.3) | 0.07293 (Deleterious) |
| FATHMM raw prediction score | 0.07819 (Tolerated) |
| Deleterious probability by DeFine | 0.4646 (Neutral) |
| Entrez Gene ID | 168507 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PKD1L1 (GeneCards) |
| Number of variants in PKD1L1 in this database | 2 (view all the variants) |
| Full name | polycystin 1 like 1, transient receptor potential channel interacting |
| Band | 7p12.3 |
| Other IDs | Vega: OTTHUMG00000155649 OMIM: 609721 HGNC: HGNC:18053 Ensembl: ENSG00000158683 |
| Other names | HTX8, PRO19563 |
| Summary | This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |