| Variant ID | 12931 |
|---|---|
| Entrez Gene ID | 55312 |
| Gene | RFK (GeneCards) |
| Location | hg19 9:79007555-79007555
hg38 9:76392639-76392639 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.79007555 G>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1888 |
| CADD Raw score (version 1.3) | -0.023506 (Deleterious) |
| FATHMM raw prediction score | 0.0711 (Tolerated) |
| Deleterious probability by DeFine | 0.1533 (Neutral) |
| Entrez Gene ID | 55312 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RFK (GeneCards) |
| Number of variants in RFK in this database | 1 (view all the variants) |
| Full name | riboflavin kinase |
| Band | 9q21.13 |
| Other IDs | Vega: OTTHUMG00000020040 OMIM: 613010 HGNC: HGNC:30324 Ensembl: ENSG00000135002 |
| Other names | RIFK |
| Summary | Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009] |
| 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; |