| Variant ID | 29224 |
|---|---|
| Entrez Gene ID | 57467 |
| Gene | HHATL (GeneCards) |
| Location | hg19 3:42735111-42735111
hg38 3:42693619-42693619 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.42735111 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5613 |
| CADD Raw score (version 1.3) | 5.585142 (Deleterious) |
| FATHMM raw prediction score | 0.99275 (Tolerated) |
| SIFT score | 0.018 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.195 (Deleterious) |
| PROVEAN score | -2.11 (Tolerated) |
| MetaSVM score | -0.904 (Tolerated) |
| MetaLR score | 0.139 (Tolerated) |
| MCAP score | 0.105 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.703 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.922 |
| Deleterious probability by iFish2 | 0.2226 (Neutral) |
| Deleterious probability by DeFine | 0.965 (Deleterious) |
| Entrez Gene ID | 57467 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HHATL (GeneCards) |
| Number of variants in HHATL in this database | 1 (view all the variants) |
| Full name | hedgehog acyltransferase like |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000133043 OMIM: 608116 HGNC: HGNC:13242 Ensembl: ENSG00000010282 |
| Other names | GUP1, OACT3, C3orf3, MBOAT3, MSTP002 |
| Summary | None |
| Individual ID | 28503910.101 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |