| Variant ID | 29172 |
|---|---|
| Entrez Gene ID | 51343 |
| Gene | FZR1 (GeneCards) |
| Location | hg19 19:3527699-3527699
hg38 19:3527701-3527701 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.3527699 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5519580 |
| Variant occurences in COSMIC | 1(biliary_tract) |
| EIGEN score | 0.8509 |
| CADD Raw score (version 1.3) | 4.802167 (Deleterious) |
| FATHMM raw prediction score | 0.96195 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.705 (Deleterious) |
| PROVEAN score | -3.65 (Deleterious) |
| MetaSVM score | -0.735 (Tolerated) |
| MetaLR score | 0.132 (Tolerated) |
| MCAP score | 0.122 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.14 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.702 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.203 |
| Deleterious probability by iFish2 | 0.9992 (Deleterious) |
| Deleterious probability by DeFine | 0.9751 (Deleterious) |
| Entrez Gene ID | 51343 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FZR1 (GeneCards) |
| Number of variants in FZR1 in this database | 2 (view all the variants) |
| Full name | fizzy and cell division cycle 20 related 1 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180747 OMIM: 603619 HGNC: HGNC:24824 Ensembl: ENSG00000105325 |
| Other names | FZR, CDH1, FZR2, HCDH, HCDH1, CDC20C |
| Summary | None |
| Individual ID | 28503910.49 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |