| Variant ID | 29864 |
|---|---|
| Entrez Gene ID | 3034 |
| Gene | HAL (GeneCards) |
| Location | hg19 12:96374614-96374614
hg38 12:95980836-95980836 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.96374614 C>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4282 |
| CADD Raw score (version 1.3) | 3.653285 (Deleterious) |
| FATHMM raw prediction score | 0.88391 (Tolerated) |
| SIFT score | 0.047 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 |
| MutatioinAssessor score | 1.49 (Tolerated) |
| PROVEAN score | -2.63 (Deleterious) |
| MetaSVM score | -0.39 (Tolerated) |
| MetaLR score | 0.35 (Tolerated) |
| MCAP score | 0.086 (Deleterious) |
| FitCons score | 0.549 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.144 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.689 |
| Deleterious probability by iFish2 | 0.2694 (Neutral) |
| Deleterious probability by DeFine | 0.9127 (Deleterious) |
| Entrez Gene ID | 3034 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HAL (GeneCards) |
| Number of variants in HAL in this database | 1 (view all the variants) |
| Full name | histidine ammonia-lyase |
| Band | 12q23.1 |
| Other IDs | Vega: OTTHUMG00000170354 OMIM: 609457 HGNC: HGNC:4806 Ensembl: ENSG00000084110 |
| Other names | HIS, HSTD |
| Summary | Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
| Individual ID | 28867142.15 (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; |