| Variant ID | 29321 |
|---|---|
| Entrez Gene ID | 3157 |
| Gene | HMGCS1 (GeneCards) |
| Location | hg19 5:43298925-43298925
hg38 5:43298823-43298823 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000005.9:g.43298925 G>A (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1731 |
| CADD Raw score (version 1.3) | 5.969922 (Deleterious) |
| FATHMM raw prediction score | 0.97275 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.905 (Deleterious) |
| PROVEAN score | -5.71 (Deleterious) |
| MetaSVM score | 1.052 (Deleterious) |
| MetaLR score | 0.923 (Deleterious) |
| MCAP score | 0.23 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.602 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.537 |
| Deleterious probability by iFish2 | 0.9761 (Deleterious) |
| Deleterious probability by DeFine | 0.9414 (Deleterious) |
| Entrez Gene ID | 3157 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMGCS1 (GeneCards) |
| Number of variants in HMGCS1 in this database | 4 (view all the variants) |
| Full name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
| Band | 5p12 |
| Other IDs | Vega: OTTHUMG00000162231 OMIM: 142940 HGNC: HGNC:5007 Ensembl: ENSG00000112972 |
| Other names | HMGCS |
| Summary | None |
| Individual ID | 28503910.198 (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; |