| Variant ID | 28361 |
|---|---|
| Entrez Gene ID | 643542 |
| Gene | LOC643542 (GeneCards) |
| Location | hg19 18:65461962-65461962
hg38 18:67794725-67794725 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.65461962 G>C (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5562 |
| CADD Raw score (version 1.3) | -0.37546 (Deleterious) |
| FATHMM raw prediction score | 0.23354 (Tolerated) |
| Deleterious probability by DeFine | 0.5244 (Deleterious) |
| Entrez Gene ID | 643542 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC643542 (GeneCards) |
| Number of variants in LOC643542 in this database | 18 (view all the variants) |
| Full name | uncharacterized LOC643542 |
| Band | 18q22.1 |
| Other IDs | Ensembl: ENSG00000265533 |
| 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 |