| Variant ID | 17023 |
|---|---|
| Entrez Gene ID | 29951 |
| Gene | PDZRN4 (GeneCards) |
| Location | hg19 12:42055158-42055158
hg38 12:41661356-41661356 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.42055158 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0133 |
| CADD Raw score (version 1.3) | 0.14068 (Deleterious) |
| FATHMM raw prediction score | 0.10491 (Tolerated) |
| Deleterious probability by DeFine | 0.6019 (Deleterious) |
| Entrez Gene ID | 29951 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDZRN4 (GeneCards) |
| Number of variants in PDZRN4 in this database | 16 (view all the variants) |
| Full name | PDZ domain containing ring finger 4 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169364 OMIM: 609730 HGNC: HGNC:30552 Ensembl: ENSG00000165966 |
| Other names | LNX4, SAMCAP3L |
| Summary | None |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |