| Variant ID | 1504 |
|---|---|
| Entrez Gene ID | 54872 |
| Gene | PIGG (GeneCards) |
| Location | hg19 4:499570-499570
hg38 4:505781-505781 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000004.11:g.499570_499570 del (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 | NM_001289051.1 |
| mRNA length | 3449 |
| Reference length | 191154276 |
| Deleterious probability by DeFine | 0.8199 (Deleterious) |
|---|
| Entrez Gene ID | 54872 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIGG (GeneCards) |
| Number of variants in PIGG in this database | 2 (view all the variants) |
| Full name | phosphatidylinositol glycan anchor biosynthesis class G |
| Band | 4p16.3 |
| Other IDs | Vega: OTTHUMG00000112457 OMIM: 616918 HGNC: HGNC:25985 Ensembl: ENSG00000174227 |
| Other names | GPI7, LAS21, MRT53, PRO4405, RLGS1930 |
| Summary | This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
| Individual ID | 28867142.37 (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; |