| Variant ID | 29940 |
|---|---|
| Entrez Gene ID | 4047 |
| Gene | LSS (GeneCards) |
| Location | hg19 21:47628169-47628169
hg38 21:46208255-46208255 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000021.8:g.47628169 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs138907803 |
| Variant IDs in COSMIC (version 89) | 1214061 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -1.1882 |
| CADD Raw score (version 1.3) | 3.243164 (Deleterious) |
| FATHMM raw prediction score | 0.2696 (Tolerated) |
| SIFT score | 0.057 (Tolerated) |
| LRT score | 0.793 (Tolerated) |
| MutationTaster score | 0.97 (Tolerated) |
| MutatioinAssessor score | 2.1 (Deleterious) |
| PROVEAN score | -0.25 (Tolerated) |
| MetaSVM score | -1.042 (Tolerated) |
| MetaLR score | 0.05 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -8.21 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.484 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.235 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.136 |
| Deleterious probability by iFish2 | 0.0266 (Neutral) |
| Deleterious probability by DeFine | 0.9311 (Deleterious) |
| Entrez Gene ID | 4047 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LSS (GeneCards) |
| Number of variants in LSS in this database | 1 (view all the variants) |
| Full name | lanosterol synthase |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000090633 OMIM: 600909 HGNC: HGNC:6708 Ensembl: ENSG00000160285 |
| Other names | OSC, CTRCT44 |
| Summary | The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] |
| Individual ID | 28867142.24 (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; |