| Variant ID | 29753 |
|---|---|
| Entrez Gene ID | 84859 |
| Gene | LRCH3 (GeneCards) |
| Location | hg19 3:197562676-197562676
hg38 3:197835805-197835805 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.197562676 C>T (Genome Assembly: hg19) |
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs181162625 |
| EIGEN score | 0.3815 |
| CADD Raw score (version 1.3) | 7.937957 (Deleterious) |
| FATHMM raw prediction score | 0.96527 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.981 (Deleterious) |
| MutatioinAssessor score | 3.135 (Deleterious) |
| PROVEAN score | -3.29 (Deleterious) |
| MetaSVM score | -0.133 (Tolerated) |
| MetaLR score | 0.39 (Tolerated) |
| MCAP score | 0.041 (Deleterious) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.945 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.963 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.992 |
| Deleterious probability by iFish2 | 0.9817 (Deleterious) |
| Deleterious probability by DeFine | 0.872 (Deleterious) |
| Entrez Gene ID | 84859 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRCH3 (GeneCards) |
| Number of variants in LRCH3 in this database | 2 (view all the variants) |
| Full name | leucine rich repeats and calponin homology domain containing 3 |
| Band | 3q29 |
| Other IDs | Vega: OTTHUMG00000155378 HGNC: HGNC:28637 Ensembl: ENSG00000186001 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.31 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |