| Variant ID | 25560 |
|---|---|
| Entrez Gene ID | 100144602 |
| Gene | EPHA5-AS1 (GeneCards) |
| Location | hg19 4:66889713-66889713
hg38 4:66023995-66023995 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.66889713 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2571 |
| CADD Raw score (version 1.3) | 0.105705 (Deleterious) |
| FATHMM raw prediction score | 0.10639 (Tolerated) |
| Deleterious probability by DeFine | 0.0581 (Neutral) |
| Entrez Gene ID | 100144602 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPHA5-AS1 (GeneCards) |
| Number of variants in EPHA5-AS1 in this database | 7 (view all the variants) |
| Full name | EPHA5 antisense RNA 1 |
| Band | 4q13.2 |
| Other IDs | HGNC: HGNC:50602 Ensembl: ENSG00000250846 |
| Other names | None |
| 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 |