| Variant ID | 26100 |
|---|---|
| Entrez Gene ID | 8732 |
| Gene | RNGTT (GeneCards) |
| Location | hg19 6:89553426-89553426
hg38 6:88843707-88843707 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.89553426 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.0006 |
|---|---|
| EIGEN score | -0.7835 |
| CADD Raw score (version 1.3) | -0.625668 (Deleterious) |
| FATHMM raw prediction score | 0.04023 (Tolerated) |
| Deleterious probability by DeFine | 0.1238 (Neutral) |
| Entrez Gene ID | 8732 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNGTT (GeneCards) |
| Number of variants in RNGTT in this database | 8 (view all the variants) |
| Full name | RNA guanylyltransferase and 5'-phosphatase |
| Band | 6q15 |
| Other IDs | Vega: OTTHUMG00000015190 OMIM: 603512 HGNC: HGNC:10073 Ensembl: ENSG00000111880 |
| Other names | HCE, HCE1, hCAP, CAP1A |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |