| Variant ID | 29228 |
|---|---|
| Entrez Gene ID | 10403 |
| Gene | NDC80 (GeneCards) |
| Location | hg19 18:2595619-2595619
hg38 18:2595620-2595620 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000018.9:g.2595619 C>T (Genome Assembly: GRCh37) |
| 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| Variant IDs in COSMIC (version 89) | 417872 |
| Variant occurences in COSMIC | 1(urinary_tract) |
| EIGEN score | -0.107 |
| CADD Raw score (version 1.3) | 3.500517 (Deleterious) |
| FATHMM raw prediction score | 0.95573 (Tolerated) |
| SIFT score | 0.139 (Tolerated) |
| LRT score | 0.009 (Tolerated) |
| MutationTaster score | 0.798 (Deleterious) |
| MutatioinAssessor score | 1.955 (Deleterious) |
| PROVEAN score | -2.03 (Tolerated) |
| MetaSVM score | -0.941 (Tolerated) |
| MetaLR score | 0.089 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.46 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.152 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.478 |
| Deleterious probability by iFish2 | 0.0975 (Neutral) |
| Deleterious probability by DeFine | 0.9148 (Deleterious) |
| Entrez Gene ID | 10403 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NDC80 (GeneCards) |
| Number of variants in NDC80 in this database | 1 (view all the variants) |
| Full name | NDC80, kinetochore complex component |
| Band | 18p11.32 |
| Other IDs | Vega: OTTHUMG00000131483 OMIM: 607272 HGNC: HGNC:16909 Ensembl: ENSG00000080986 |
| Other names | HEC, HEC1, TID3, KNTC2, HsHec1, hsNDC80 |
| Summary | This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011] |
| Individual ID | 28503910.105 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |