| Variant ID | 29212 |
|---|---|
| Entrez Gene ID | 10324 |
| Gene | KLHL41 (GeneCards) |
| Location | hg19 2:170377387-170377387
hg38 2:169520877-169520877 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000002.11:g.170377387 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7318 |
| CADD Raw score (version 1.3) | 6.088712 (Deleterious) |
| FATHMM raw prediction score | 0.99572 (Tolerated) |
| SIFT score | 0.052 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.945 (Deleterious) |
| MutatioinAssessor score | 1.91 (Tolerated) |
| PROVEAN score | -0.65 (Tolerated) |
| MetaSVM score | 0.11 (Deleterious) |
| MetaLR score | 0.603 (Deleterious) |
| MCAP score | 0.062 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.596 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.278 |
| Deleterious probability by iFish2 | 0.9882 (Deleterious) |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 10324 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL41 (GeneCards) |
| Number of variants in KLHL41 in this database | 1 (view all the variants) |
| Full name | kelch like family member 41 |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000132205 OMIM: 607701 HGNC: HGNC:16905 Ensembl: ENSG00000239474 |
| Other names | Krp1, KBTBD10, SARCOSIN |
| Summary | This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015] |
| Individual ID | 28503910.89 (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; |