| Variant ID | 29847 |
|---|---|
| Entrez Gene ID | 28971 |
| Gene | AAMDC (GeneCards) |
| Location | hg19 11:77580840-77580840
hg38 11:77869794-77869794 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.77580840 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs186614523 |
| EIGEN score | 0.7494 |
| CADD Raw score (version 1.3) | 12.896364 (Deleterious) |
| FATHMM raw prediction score | 0.98245 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.047 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.504 |
| Deleterious probability by DeFine | 0.9527 (Deleterious) |
| Entrez Gene ID | 28971 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AAMDC (GeneCards) |
| Number of variants in AAMDC in this database | 1 (view all the variants) |
| Full name | adipogenesis associated Mth938 domain containing |
| Band | 11q14.1 |
| Other IDs | Vega: OTTHUMG00000166651 HGNC: HGNC:30205 Ensembl: ENSG00000087884 |
| Other names | CK067, PTD015, C11orf67 |
| Summary | None |
| Individual ID | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |