| Variant ID | 29343 |
|---|---|
| Entrez Gene ID | 400986 |
| Gene | ANKRD36C (GeneCards) |
| Location | hg19 2:96610876-96610876
hg38 2:95945128-95945128 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.96610876 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9308 |
| CADD Raw score (version 1.3) | 0.434057 (Deleterious) |
| FATHMM raw prediction score | 0.00908 (Tolerated) |
| SIFT score | 0.015 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -1.33 (Tolerated) |
| MetaSVM score | -1 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.073 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.514 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.007 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.052 |
| Deleterious probability by iFish2 | 0.0032 (Neutral) |
| Deleterious probability by DeFine | 0.1551 (Neutral) |
| Entrez Gene ID | 400986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANKRD36C (GeneCards) |
| Number of variants in ANKRD36C in this database | 1 (view all the variants) |
| Full name | ankyrin repeat domain 36C |
| Band | 2q11.1 |
| Other IDs | Vega: OTTHUMG00000155211 HGNC: HGNC:32946 Ensembl: ENSG00000174501 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.19 (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; |