| Variant ID | 29133 |
|---|---|
| Entrez Gene ID | 115399 |
| Gene | LRRC56 (GeneCards) |
| Location | hg19 11:551280-551280
hg38 11:551280-551280 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.551280 G>A (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5067 |
| CADD Raw score (version 1.3) | 0.520708 (Deleterious) |
| FATHMM raw prediction score | 0.92071 (Tolerated) |
| Deleterious probability by DeFine | 0.7457 (Deleterious) |
| Entrez Gene ID | 115399 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRRC56 (GeneCards) |
| Number of variants in LRRC56 in this database | 2 (view all the variants) |
| Full name | leucine rich repeat containing 56 |
| Band | 11p15.5 |
| Other IDs | Vega: OTTHUMG00000132003 HGNC: HGNC:25430 Ensembl: ENSG00000161328 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |