| Variant ID | 29659 |
|---|---|
| Entrez Gene ID | 84626 |
| Gene | KRBA1 (GeneCards) |
| Location | hg19 7:149431023-149431023
hg38 7:149733934-149733934 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.149431023 G>A (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.8933 |
| CADD Raw score (version 1.3) | 2.883794 (Deleterious) |
| FATHMM raw prediction score | 0.04189 (Tolerated) |
| SIFT score | 0.372 (Tolerated) |
| LRT score | 0.503 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -1.87 (Tolerated) |
| MetaSVM score | -0.992 (Tolerated) |
| MetaLR score | 0.038 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.184 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.971 |
| Deleterious probability by DeFine | 0.8953 (Deleterious) |
| Entrez Gene ID | 84626 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRBA1 (GeneCards) |
| Number of variants in KRBA1 in this database | 2 (view all the variants) |
| Full name | KRAB-A domain containing 1 |
| Band | 7q36.1 |
| Other IDs | Vega: OTTHUMG00000157886 HGNC: HGNC:22228 Ensembl: ENSG00000133619 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.335 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |