| Variant ID | 29215 |
|---|---|
| Entrez Gene ID | 128077 |
| Gene | LIX1L (GeneCards) |
| Location | hg19 1:145498680-145498680
hg38 1:145936408-145936408 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.145498680 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4978391 |
| Variant occurences in COSMIC | 1(breast)|3(oesophagus) |
| EIGEN score | 0.5221 |
| CADD Raw score (version 1.3) | 11.818511 (Deleterious) |
| FATHMM raw prediction score | 0.97069 (Tolerated) |
| Deleterious probability by DeFine | 0.8977 (Deleterious) |
| Entrez Gene ID | 128077 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LIX1L (GeneCards) |
| Number of variants in LIX1L in this database | 1 (view all the variants) |
| Full name | limb and CNS expressed 1 like |
| Band | 1q21.1 |
| Other IDs | Vega: OTTHUMG00000013741 HGNC: HGNC:28715 Ensembl: ENSG00000271601 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.92 (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; |