| Variant ID | 26117 |
|---|---|
| Entrez Gene ID | 352999 |
| Gene | C6orf58 (GeneCards) |
| Location | hg19 6:127958816-127958816
hg38 6:127637671-127637671 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.127958816 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2533 |
| CADD Raw score (version 1.3) | -0.081721 (Deleterious) |
| FATHMM raw prediction score | 0.11845 (Tolerated) |
| Deleterious probability by DeFine | 0.2731 (Neutral) |
| Entrez Gene ID | 352999 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C6orf58 (GeneCards) |
| Number of variants in C6orf58 in this database | 6 (view all the variants) |
| Full name | chromosome 6 open reading frame 58 |
| Band | 6q22.33 |
| Other IDs | Vega: OTTHUMG00000015530 HGNC: HGNC:20960 Ensembl: ENSG00000184530 |
| Other names | LEG1 |
| 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 |