| Variant ID | 16125 |
|---|---|
| Entrez Gene ID | 51367 |
| Gene | POP5 (GeneCards) |
| Location | hg19 12:121066071-121066071
hg38 12:120628268-120628268 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.121066071 T>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 | 1.2789 |
| CADD Raw score (version 1.3) | 3.028262 (Deleterious) |
| FATHMM raw prediction score | 0.96281 (Tolerated) |
| Deleterious probability by DeFine | 0.7739 (Deleterious) |
| Entrez Gene ID | 51367 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POP5 (GeneCards) |
| Number of variants in POP5 in this database | 1 (view all the variants) |
| Full name | POP5 homolog, ribonuclease P/MRP subunit |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000169023 OMIM: 609992 HGNC: HGNC:17689 Ensembl: ENSG00000167272 |
| Other names | RPP2, RPP20, hPop5, HSPC004 |
| 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; |