| Variant ID | 1001 |
|---|---|
| Entrez Gene ID | 5314 |
| Gene | PKHD1 (GeneCards) |
| Location | hg19 6:51618048-51618048
hg38 6:51753250-51753250 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.51618048 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2967 |
| Amino acid changes in protein | G > G |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5795199 |
| Variant occurences in COSMIC | 1(breast) |
| EIGEN score | 1.3078 |
| CADD Raw score (version 1.3) | 0.827434 (Deleterious) |
| FATHMM raw prediction score | 0.92762 (Tolerated) |
| Deleterious probability by DeFine | 0.9239 (Deleterious) |
| Entrez Gene ID | 5314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PKHD1 (GeneCards) |
| Number of variants in PKHD1 in this database | 9 (view all the variants) |
| Full name | PKHD1, fibrocystin/polyductin |
| Band | 6p12.3-p12.2 |
| Other IDs | Vega: OTTHUMG00000014841 OMIM: 606702 HGNC: HGNC:9016 Ensembl: ENSG00000170927 |
| Other names | FPC, FCYT, PKD4, ARPKD, TIGM1 |
| Summary | The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |