| Variant ID | 17056 |
|---|---|
| Entrez Gene ID | 25900 |
| Gene | IFFO1 (GeneCards) |
| Location | hg19 12:6653056-6653056
hg38 12:6543890-6543890 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.6653056 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0186 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs188688846 |
| EIGEN score | -0.7356 |
| CADD Raw score (version 1.3) | -0.506752 (Deleterious) |
| FATHMM raw prediction score | 0.04368 (Tolerated) |
| Deleterious probability by DeFine | 0.1849 (Neutral) |
| Entrez Gene ID | 25900 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFFO1 (GeneCards) |
| Number of variants in IFFO1 in this database | 2 (view all the variants) |
| Full name | intermediate filament family orphan 1 |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000141264 OMIM: 610495 HGNC: HGNC:24970 Ensembl: ENSG00000010295 |
| Other names | IFFO, HOM-TES-103 |
| Summary | This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |