| Variant ID | 1075 |
|---|---|
| Entrez Gene ID | 26160 |
| Gene | IFT172 (GeneCards) |
| Location | hg19 2:27672393-27672393
hg38 2:27449526-27449526 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.27672393 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1399 |
| Amino acid changes in protein | F > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3910142 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 1.612 |
| CADD Raw score (version 1.3) | 1.053816 (Deleterious) |
| FATHMM raw prediction score | 0.98029 (Tolerated) |
| Deleterious probability by DeFine | 0.9606 (Deleterious) |
| Entrez Gene ID | 26160 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFT172 (GeneCards) |
| Number of variants in IFT172 in this database | 1 (view all the variants) |
| Full name | intraflagellar transport 172 |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000128425 OMIM: 607386 HGNC: HGNC:30391 Ensembl: ENSG00000138002 |
| Other names | SLB, wim, RP71, BBS20, osm-1, NPHP17, SRTD10 |
| Summary | This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |