| Variant ID | 18592 |
|---|---|
| Entrez Gene ID | 112399 |
| Gene | EGLN3 (GeneCards) |
| Location | hg19 14:34582811-34582811
hg38 14:34113605-34113605 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.34582811 G>A (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) | 0.0197 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs80195574 |
| EIGEN score | 0.5698 |
| CADD Raw score (version 1.3) | 0.066188 (Deleterious) |
| FATHMM raw prediction score | 0.33018 (Tolerated) |
| Deleterious probability by DeFine | 0.5842 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |