| Variant ID | 29183 |
|---|---|
| Entrez Gene ID | 353299 |
| Gene | RGSL1 (GeneCards) |
| Location | hg19 1:182442891-182442891
hg38 1:182473756-182473756 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.182442891 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4227204 |
| Variant occurences in COSMIC | 1(upper_aerodigestive_tract) |
| EIGEN score | 0.4365 |
| CADD Raw score (version 1.3) | 0.76109 (Deleterious) |
| FATHMM raw prediction score | 0.82904 (Tolerated) |
| Deleterious probability by DeFine | 0.8498 (Deleterious) |
| Entrez Gene ID | 353299 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RGSL1 (GeneCards) |
| Number of variants in RGSL1 in this database | 3 (view all the variants) |
| Full name | regulator of G protein signaling like 1 |
| Band | 1q25.3 |
| Other IDs | Vega: OTTHUMG00000035217 OMIM: 611012 HGNC: HGNC:18636 Ensembl: ENSG00000121446 |
| Other names | RGSL, RGSL2 |
| Summary | None |
| Individual ID | 28503910.60 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |