| Variant ID | 28113 |
|---|---|
| Entrez Gene ID | 55930 |
| Gene | MYO5C (GeneCards) |
| Location | hg19 15:52520300-52520300
hg38 15:52228103-52228103 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000015.9:g.52520300 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.086 |
| CADD Raw score (version 1.3) | 1.297343 (Deleterious) |
| FATHMM raw prediction score | 0.08932 (Tolerated) |
| Deleterious probability by DeFine | 0.1708 (Neutral) |
| Entrez Gene ID | 55930 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO5C (GeneCards) |
| Number of variants in MYO5C in this database | 3 (view all the variants) |
| Full name | myosin VC |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172630 OMIM: 610022 HGNC: HGNC:7604 Ensembl: ENSG00000128833 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |