| Variant ID | 16094 |
|---|---|
| Entrez Gene ID | 29951 |
| Gene | PDZRN4 (GeneCards) |
| Location | hg19 12:41990785-41990785
hg38 12:41596983-41596983 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.41990785 A>G (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) | 0.0053 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs11181027 |
| EIGEN score | -0.3392 |
| CADD Raw score (version 1.3) | 0.28363 (Deleterious) |
| FATHMM raw prediction score | 0.04562 (Tolerated) |
| Deleterious probability by DeFine | 0.1146 (Neutral) |
| 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 | 29217584.03 (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; |