| Variant ID | 29810 |
|---|---|
| Entrez Gene ID | 5649 |
| Gene | RELN (GeneCards) |
| Location | hg19 7:103130237-103130237
hg38 7:103489790-103489790 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.103130237 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.8703 |
| CADD Raw score (version 1.3) | 7.682739 (Deleterious) |
| FATHMM raw prediction score | 0.97933 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.24 (Deleterious) |
| PROVEAN score | -4 (Deleterious) |
| MetaSVM score | 0.158 (Deleterious) |
| MetaLR score | 0.474 (Tolerated) |
| MCAP score | 0.123 (Deleterious) |
| FitCons score | 0.624 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.358 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.079 |
| Deleterious probability by iFish2 | 0.9949 (Deleterious) |
| Deleterious probability by DeFine | 0.9636 (Deleterious) |
| Entrez Gene ID | 5649 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RELN (GeneCards) |
| Number of variants in RELN in this database | 10 (view all the variants) |
| Full name | reelin |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000157247 OMIM: 600514 HGNC: HGNC:9957 Ensembl: ENSG00000189056 |
| Other names | RL, ETL7, LIS2, PRO1598 |
| Summary | This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.46 (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; |