| Variant ID | 29386 |
|---|---|
| Entrez Gene ID | 388697 |
| Gene | HRNR (GeneCards) |
| Location | hg19 1:152188491-152188491
hg38 1:152216015-152216015 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.152188491 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2184655 |
| Variant occurences in COSMIC | 1(skin)|1(large_intestine) |
| EIGEN score | -1.2259 |
| CADD Raw score (version 1.3) | 0.117808 (Deleterious) |
| FATHMM raw prediction score | 0.00543 (Tolerated) |
| SIFT score | 0.094 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.65 (Deleterious) |
| PROVEAN score | -0.22 (Tolerated) |
| MetaSVM score | -0.911 (Tolerated) |
| MetaLR score | 0.004 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -4.12 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.151 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.269 |
| Deleterious probability by iFish2 | 0.0375 (Neutral) |
| Deleterious probability by DeFine | 0.8345 (Deleterious) |
| Entrez Gene ID | 388697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HRNR (GeneCards) |
| Number of variants in HRNR in this database | 4 (view all the variants) |
| Full name | hornerin |
| Band | 1q21.3 |
| Other IDs | Vega: OTTHUMG00000012243 OMIM: 616293 HGNC: HGNC:20846 Ensembl: ENSG00000197915 |
| Other names | FLG3, S100A16, S100a18 |
| Summary | None |
| Individual ID | 28714951.62 (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; |