| Variant ID | 263 |
|---|---|
| Entrez Gene ID | 2022 |
| Gene | ENG (GeneCards) |
| Location | hg19 9:130588072-130588072
hg38 9:127825793-127825793 |
| Disease | hereditary hemorrhagic telangiectasia (view all the variants in this disease) |
| Method | ABI3100 or 3730 |
| Mutation(HGVS format) | NC_000009.11:g.130588072_130588072 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 5 |
| Position in protein | 197 |
| Amino acid changes in protein | R > NA |
| Position in cDNA | 591 |
| Changes in cDNA | NA > NA |
| Indel | delG |
| mRNA accession | NM_000118.2 |
| mRNA length | 1878 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9176 (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 | 21158752.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 21158752 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | hereditary hemorrhagic telangiectasia (view all the variants in this disease) |
| OMIM ID | 187300 |
| Pubmed ID | 21158752 |
|---|---|
| Title | Clinical and analytic sensitivities in hereditary hemorrhagic telangiectasa testing and a report of de Novo mutations |
| Journal | Clinical Genetics |
| Publication date | 2011.04 |
| Disease | hereditary hemorrhagic telangiectasia |
| Number of cases | Male cases: 1; |