| Variant ID | 23833 |
|---|---|
| Entrez Gene ID | 791115 |
| Gene | PWRN2 (GeneCards) |
| Location | hg19 15:24441903-24441903
hg38 15:24196756-24196756 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000015.9:g.24441903 G>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3242 |
| CADD Raw score (version 1.3) | -0.144537 (Deleterious) |
| FATHMM raw prediction score | 0.08899 (Tolerated) |
| Deleterious probability by DeFine | 0.0464 (Neutral) |
| Entrez Gene ID | 791115 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PWRN2 (GeneCards) |
| Number of variants in PWRN2 in this database | 7 (view all the variants) |
| Full name | Prader-Willi region non-protein coding RNA 2 |
| Band | 15q11.2 |
| Other IDs | OMIM: 611217 HGNC: HGNC:33236 Ensembl: ENSG00000260551 |
| Other names | NCRNA00199 |
| 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; |