| Variant ID | 29615 |
|---|---|
| Entrez Gene ID | 56654 |
| Gene | NPDC1 (GeneCards) |
| Location | hg19 9:139934810-139934810
hg38 9:137040358-137040358 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.139934810 G>A (Genome Assembly: hg19) |
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.131 |
| CADD Raw score (version 1.3) | 6.621429 (Deleterious) |
| FATHMM raw prediction score | 0.94242 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.105 |
| MutationTaster score | 0.889 (Tolerated) |
| MutatioinAssessor score | 2.24 (Deleterious) |
| PROVEAN score | -5.17 (Deleterious) |
| MetaSVM score | -0.927 (Tolerated) |
| MetaLR score | 0.179 (Tolerated) |
| MCAP score | 0.697 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.462 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.262 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.748 |
| Deleterious probability by iFish2 | 0.6973 (Deleterious) |
| Deleterious probability by DeFine | 0.9173 (Deleterious) |
| Entrez Gene ID | 56654 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPDC1 (GeneCards) |
| Number of variants in NPDC1 in this database | 1 (view all the variants) |
| Full name | neural proliferation, differentiation and control 1 |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000020956 OMIM: 605798 HGNC: HGNC:7899 Ensembl: ENSG00000107281 |
| Other names | CAB, CAB-, CAB1, CAB-1, NPDC-1 |
| Summary | None |
| Individual ID | 28714951.291 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |