| Variant ID | 14047 |
|---|---|
| Entrez Gene ID | 23223 |
| Gene | RRP12 (GeneCards) |
| Location | hg19 10:99136352-99136352
hg38 10:97376595-97376595 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.99136352 A>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1708 |
| CADD Raw score (version 1.3) | 0.342164 (Deleterious) |
| FATHMM raw prediction score | 0.11153 (Tolerated) |
| Deleterious probability by DeFine | 0.2097 (Neutral) |
| Entrez Gene ID | 23223 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RRP12 (GeneCards) |
| Number of variants in RRP12 in this database | 2 (view all the variants) |
| Full name | ribosomal RNA processing 12 homolog |
| Band | 10q24.1 |
| Other IDs | Vega: OTTHUMG00000018855 OMIM: 617723 HGNC: HGNC:29100 Ensembl: ENSG00000052749 |
| Other names | KIAA0690 |
| Summary | None |
| Individual ID | 29217584.06 (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; |