| Variant ID | 27833 |
|---|---|
| Entrez Gene ID | 112399 |
| Gene | EGLN3 (GeneCards) |
| Location | hg19 14:34530036-34530036
hg38 14:34060830-34060830 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000014.8:g.34530036 C>T (Genome Assembly: GRCh37) |
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.0006 |
|---|---|
| EIGEN score | 0.3969 |
| CADD Raw score (version 1.3) | 0.677121 (Deleterious) |
| FATHMM raw prediction score | 0.27872 (Tolerated) |
| Deleterious probability by DeFine | 0.7521 (Deleterious) |
| Entrez Gene ID | 112399 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EGLN3 (GeneCards) |
| Number of variants in EGLN3 in this database | 10 (view all the variants) |
| Full name | egl-9 family hypoxia inducible factor 3 |
| Band | 14q13.1 |
| Other IDs | Vega: OTTHUMG00000029498 OMIM: 606426 HGNC: HGNC:14661 Ensembl: ENSG00000129521 |
| Other names | PHD3, HIFPH3, HIFP4H3 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |