| Variant ID | 25392 |
|---|---|
| Entrez Gene ID | 100507096 |
| Gene | GIMD1 (GeneCards) |
| Location | hg19 4:107788017-107788017
hg38 4:106866860-106866860 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.107788017 A>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1344 |
| CADD Raw score (version 1.3) | -0.157638 (Deleterious) |
| FATHMM raw prediction score | 0.23145 (Tolerated) |
| Deleterious probability by DeFine | 0.3638 (Neutral) |
| Entrez Gene ID | 100507096 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GIMD1 (GeneCards) |
| Number of variants in GIMD1 in this database | 10 (view all the variants) |
| Full name | GIMAP family P-loop NTPase domain containing 1 |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000161071 HGNC: HGNC:44141 Ensembl: ENSG00000250298 |
| 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 |