| Variant ID | 17939 |
|---|---|
| Entrez Gene ID | 8100 |
| Gene | IFT88 (GeneCards) |
| Location | hg19 13:21155810-21155810
hg38 13:20581671-20581671 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.21155810 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003431 |
|---|---|
| EIGEN score | -0.5658 |
| CADD Raw score (version 1.3) | -0.457261 (Deleterious) |
| FATHMM raw prediction score | 0.04464 (Tolerated) |
| Deleterious probability by DeFine | 0.197 (Neutral) |
| Entrez Gene ID | 8100 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFT88 (GeneCards) |
| Number of variants in IFT88 in this database | 2 (view all the variants) |
| Full name | intraflagellar transport 88 |
| Band | 13q12.11 |
| Other IDs | Vega: OTTHUMG00000016517 OMIM: 600595 HGNC: HGNC:20606 Ensembl: ENSG00000032742 |
| Other names | DAF19, TG737, TTC10, hTg737, D13S1056E |
| Summary | This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217584.22 (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; |