| Variant ID | 10784 |
|---|---|
| Entrez Gene ID | 5649 |
| Gene | RELN (GeneCards) |
| Location | hg19 7:103538661-103538661
hg38 7:103898214-103898214 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.103538661 A>G (Genome Assembly: GRCh37) |
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3015 |
| CADD Raw score (version 1.3) | -0.197277 (Deleterious) |
| FATHMM raw prediction score | 0.09283 (Tolerated) |
| Deleterious probability by DeFine | 0.1451 (Neutral) |
| 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 | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |