| Variant ID | 18740 |
|---|---|
| Entrez Gene ID | 64864 |
| Gene | RFX7 (GeneCards) |
| Location | hg19 15:56459318-56459318
hg38 15:56167120-56167120 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.56459318 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7418 |
| CADD Raw score (version 1.3) | -0.60555 (Deleterious) |
| FATHMM raw prediction score | 0.03061 (Tolerated) |
| Deleterious probability by DeFine | 0.1601 (Neutral) |
| Entrez Gene ID | 64864 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RFX7 (GeneCards) |
| Number of variants in RFX7 in this database | 2 (view all the variants) |
| Full name | regulatory factor X7 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000172508 OMIM: 612660 HGNC: HGNC:25777 Ensembl: ENSG00000181827 |
| Other names | RFXDC2 |
| Summary | RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009] |
| Individual ID | 29217584.01 (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; |