| Variant ID | 29247 |
|---|---|
| Entrez Gene ID | 114792 |
| Gene | KLHL32 (GeneCards) |
| Location | hg19 6:97561801-97561801
hg38 6:97113925-97113925 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.97561801 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1474 |
| CADD Raw score (version 1.3) | 0.776852 (Deleterious) |
| FATHMM raw prediction score | 0.94359 (Tolerated) |
| SIFT score | 0.11 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.11 (Tolerated) |
| PROVEAN score | -0.83 (Tolerated) |
| MetaSVM score | -0.885 (Tolerated) |
| MetaLR score | 0.147 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.654 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.674 |
| Deleterious probability by iFish2 | 0.6898 (Deleterious) |
| Deleterious probability by DeFine | 0.9715 (Deleterious) |
| Entrez Gene ID | 114792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL32 (GeneCards) |
| Number of variants in KLHL32 in this database | 3 (view all the variants) |
| Full name | kelch like family member 32 |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000015247 HGNC: HGNC:21221 Ensembl: ENSG00000186231 |
| Other names | BKLHD5, KIAA1900, dJ21F7.1, UG0030H05 |
| Summary | None |
| Individual ID | 28503910.123 (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; |