| Variant ID | 29827 |
|---|---|
| Entrez Gene ID | 2022 |
| Gene | ENG (GeneCards) |
| Location | hg19 9:130587537-130587537
hg38 9:127825258-127825258 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.130587537 G>A (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8863 |
| CADD Raw score (version 1.3) | 1.134117 (Deleterious) |
| FATHMM raw prediction score | 0.20355 (Tolerated) |
| Deleterious probability by DeFine | 0.8236 (Deleterious) |
| Entrez Gene ID | 2022 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ENG (GeneCards) |
| Number of variants in ENG in this database | 11 (view all the variants) |
| Full name | endoglin |
| Band | 9q34.11 |
| Other IDs | Vega: OTTHUMG00000020723 OMIM: 131195 HGNC: HGNC:3349 Ensembl: ENSG00000106991 |
| Other names | END, HHT1, ORW1 |
| Summary | This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] |
| Individual ID | 28867142.82 (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; |