| Variant ID | 23700 |
|---|---|
| Entrez Gene ID | 29951 |
| Gene | PDZRN4 (GeneCards) |
| Location | hg19 12:42264363-42264363
hg38 12:41870561-41870561 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.42264363 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0127 |
| CADD Raw score (version 1.3) | 0.854479 (Deleterious) |
| FATHMM raw prediction score | 0.29259 (Tolerated) |
| Deleterious probability by DeFine | 0.1419 (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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |