| Variant ID | 22283 |
|---|---|
| Entrez Gene ID | 100532742 |
| Gene | PIR-FIGF (GeneCards) |
| Location | hg19 X:15490915-15490915
hg38 X:15472792-15472792 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.15490915 G>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.355167 (Deleterious) |
| FATHMM raw prediction score | 0.12664 (Tolerated) |
| Deleterious probability by DeFine | 0.4131 (Neutral) |
| Entrez Gene ID | 100532742 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIR-FIGF (GeneCards) |
| Number of variants in PIR-FIGF in this database | 1 (view all the variants) |
| Full name | PIR-FIGF readthrough |
| Band | Xp22.2 |
| Other IDs | None: |
| Other names | None |
| Summary | This locus represents naturally occurring read-through transcription between the neighboring pirin (GeneID 8544) and vascular endothelial growth factor D (GeneID 2277) genes on chromosome X. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |