| Variant ID | 242 |
|---|---|
| Entrez Gene ID | 2022 |
| Gene | ENG (GeneCards) |
| Location | hg19 9:130588801-130588801
hg38 9:127826522-127826522 |
| Disease | Hereditary hemorrhagic telangiectasia type1 (view all the variants in this disease) |
| Method | |
| Mutation(HGVS format) | NC_000009.11:g.130588801 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 4 |
| Position in protein | 171 |
| Amino acid changes in protein | R > Z |
| Position in cDNA | 511 |
| Changes in cDNA | C > T |
| mRNA accession | NM_000118.2 |
| mRNA length | 1878 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6654030 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7214 |
| CADD Raw score (version 1.3) | 11.873575 (Deleterious) |
| FATHMM raw prediction score | 0.94688 (Tolerated) |
| LRT score | 0.388 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.758 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.111 |
| Deleterious probability by DeFine | 0.9527 (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 | 21415079.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 21415079 |
| Whose mosaic mutation | Father |
| Phenotype | 3 |
| Number of affected children | 3 ( female: 3; ) |
| Disease | Hereditary hemorrhagic telangiectasia type1 (view all the variants in this disease) |
| OMIM ID | 187300 |
| Pubmed ID | 21415079 |
|---|---|
| Title | Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia |
| Journal | Journal of Medical Genetics |
| Publication date | 2011.05 |
| Disease | Hereditary hemorrhagic telangiectasia type1 |
| Incidence | 1/10000 |
| Number of cases | Male cases: 2; Female cases: 1; |