| Variant ID | 29438 |
|---|---|
| Entrez Gene ID | 9651 |
| Gene | PLCH2 (GeneCards) |
| Location | hg19 1:2411622-2411622
hg38 1:2480183-2480183 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.2411622 G>A (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2049805 |
| Variant occurences in COSMIC | 1(lung)|1(large_intestine) |
| EIGEN score | 1.029 |
| CADD Raw score (version 1.3) | 4.342928 (Deleterious) |
| FATHMM raw prediction score | 0.93039 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.01 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.077 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.886 |
| Deleterious probability by DeFine | 0.9354 (Deleterious) |
| Entrez Gene ID | 9651 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCH2 (GeneCards) |
| Number of variants in PLCH2 in this database | 2 (view all the variants) |
| Full name | phospholipase C eta 2 |
| Band | 1p36.32 |
| Other IDs | Vega: OTTHUMG00000000719 OMIM: 612836 HGNC: HGNC:29037 Ensembl: ENSG00000149527 |
| Other names | PLCL4, PLC-L4, PLCeta2, PLC-eta2 |
| Summary | PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009] |
| Individual ID | 28714951.114 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |