| Variant ID | 29704 |
|---|---|
| Entrez Gene ID | 57576 |
| Gene | KIF17 (GeneCards) |
| Location | hg19 1:21031010-21031010
hg38 1:20704517-20704517 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.21031010 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009691 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs76507805 |
| Variant IDs in COSMIC (version 89) | 1338585 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.977 |
| CADD Raw score (version 1.3) | 1.183161 (Deleterious) |
| FATHMM raw prediction score | 0.96306 (Tolerated) |
| Deleterious probability by DeFine | 0.933 (Deleterious) |
| Entrez Gene ID | 57576 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF17 (GeneCards) |
| Number of variants in KIF17 in this database | 2 (view all the variants) |
| Full name | kinesin family member 17 |
| Band | 1p36.12 |
| Other IDs | Vega: OTTHUMG00000002863 OMIM: 605037 HGNC: HGNC:19167 Ensembl: ENSG00000117245 |
| Other names | KIF3X, KLP-2, OSM-3, KIF17B |
| Summary | None |
| Individual ID | 28867142.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |