| Variant ID | 24484 |
|---|---|
| Entrez Gene ID | 84871 |
| Gene | AGBL4 (GeneCards) |
| Location | hg19 1:49557432-49557432
hg38 1:49091760-49091760 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.49557432 C>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0585 |
| CADD Raw score (version 1.3) | 0.819805 (Deleterious) |
| FATHMM raw prediction score | 0.29485 (Tolerated) |
| Deleterious probability by DeFine | 0.0808 (Neutral) |
| Entrez Gene ID | 84871 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGBL4 (GeneCards) |
| Number of variants in AGBL4 in this database | 13 (view all the variants) |
| Full name | ATP/GTP binding protein like 4 |
| Band | 1p33 |
| Other IDs | Vega: OTTHUMG00000007793 OMIM: 616476 HGNC: HGNC:25892 Ensembl: ENSG00000186094 |
| Other names | CCP6 |
| 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 |