| Variant ID | 29353 |
|---|---|
| Entrez Gene ID | 497190 |
| Gene | CLEC18B (GeneCards) |
| Location | hg19 16:74444506-74444506
hg38 16:74410608-74410608 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.74444506 T>C (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6226 |
| CADD Raw score (version 1.3) | 2.849704 (Deleterious) |
| FATHMM raw prediction score | 0.8995 (Tolerated) |
| SIFT score | 0.067 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.643 (Deleterious) |
| PROVEAN score | -1.94 (Tolerated) |
| MetaSVM score | -1.058 (Tolerated) |
| MetaLR score | 0.037 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.01 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.106 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.829 |
| Deleterious probability by iFish2 | 0.0794 (Neutral) |
| Deleterious probability by DeFine | 0.766 (Deleterious) |
| Entrez Gene ID | 497190 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLEC18B (GeneCards) |
| Number of variants in CLEC18B in this database | 2 (view all the variants) |
| Full name | C-type lectin domain family 18 member B |
| Band | 16q23.1 |
| Other IDs | Vega: OTTHUMG00000176998 OMIM: 616572 HGNC: HGNC:33849 Ensembl: ENSG00000140839 |
| Other names | MRCL2 |
| Summary | None |
| Individual ID | 28714951.29 (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; |