| Variant ID | 29736 |
|---|---|
| Entrez Gene ID | 547 |
| Gene | KIF1A (GeneCards) |
| Location | hg19 2:241724471-241724471
hg38 2:240785054-240785054 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.241724471 C>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6694900 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.2439 |
| CADD Raw score (version 1.3) | 7.401717 (Deleterious) |
| FATHMM raw prediction score | 0.93619 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.305 (Tolerated) |
| PROVEAN score | -3.53 (Deleterious) |
| MetaSVM score | -0.842 (Tolerated) |
| MetaLR score | 0.194 (Tolerated) |
| MCAP score | 0.377 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.62 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.565 |
| Deleterious probability by iFish2 | 0.8586 (Deleterious) |
| Deleterious probability by DeFine | 0.9651 (Deleterious) |
| Entrez Gene ID | 547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF1A (GeneCards) |
| Number of variants in KIF1A in this database | 2 (view all the variants) |
| Full name | kinesin family member 1A |
| Band | 2q37.3 |
| Other IDs | Vega: OTTHUMG00000151940 OMIM: 601255 HGNC: HGNC:888 Ensembl: ENSG00000130294 |
| Other names | ATSV, MRD9, HSN2C, SPG30, UNC104, C2orf20 |
| Summary | The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] |
| Individual ID | 28867142.28 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |