| Variant ID | 1242 |
|---|---|
| Entrez Gene ID | 29119 |
| Gene | CTNNA3 (GeneCards) |
| Location | hg19 10:69366755-69366755
hg38 10:67606997-67606997 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.69366755 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 51 |
| Amino acid changes in protein | R > P |
| Position in cDNA | 152 |
| Changes in cDNA | G > C |
| mRNA accession | NM_001127384.1 |
| mRNA length | 3174 |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.625 |
| CADD Raw score (version 1.3) | 7.369171 (Deleterious) |
| FATHMM raw prediction score | 0.96298 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0.012 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.625 (Tolerated) |
| PROVEAN score | -3.78 (Deleterious) |
| MetaSVM score | -0.663 (Tolerated) |
| MetaLR score | 0.244 (Tolerated) |
| MCAP score | 0.04 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.685 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.845 |
| Deleterious probability by iFish2 | 0.9818 (Deleterious) |
| Deleterious probability by DeFine | 0.9566 (Deleterious) |
| Entrez Gene ID | 29119 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTNNA3 (GeneCards) |
| Number of variants in CTNNA3 in this database | 26 (view all the variants) |
| Full name | catenin alpha 3 |
| Band | 10q21.3 |
| Other IDs | Vega: OTTHUMG00000018334 OMIM: 607667 HGNC: HGNC:2511 Ensembl: ENSG00000183230 |
| Other names | VR22, ARVD13 |
| Summary | This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
| Individual ID | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |