| Variant ID | 25035 |
|---|---|
| Entrez Gene ID | 152273 |
| Gene | FGD5 (GeneCards) |
| Location | hg19 3:14908994-14908994
hg38 3:14867487-14867487 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000003.11:g.14908994 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.0041 |
| CADD Raw score (version 1.3) | 0.013161 (Deleterious) |
| FATHMM raw prediction score | 0.11863 (Tolerated) |
| Deleterious probability by DeFine | 0.3725 (Neutral) |
| Entrez Gene ID | 152273 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGD5 (GeneCards) |
| Number of variants in FGD5 in this database | 2 (view all the variants) |
| Full name | FYVE, RhoGEF and PH domain containing 5 |
| Band | 3p25.1 |
| Other IDs | Vega: OTTHUMG00000155556 OMIM: 614788 HGNC: HGNC:19117 Ensembl: ENSG00000154783 |
| Other names | ZFYVE23 |
| 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 |