| Variant ID | 28495 |
|---|---|
| Entrez Gene ID | 284395 |
| Gene | LOC284395 (GeneCards) |
| Location | hg19 19:30011761-30011761
hg38 19:29520854-29520854 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000019.9:g.30011761 C>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0062 |
| CADD Raw score (version 1.3) | 0.211251 (Deleterious) |
| FATHMM raw prediction score | 0.16715 (Tolerated) |
| Deleterious probability by DeFine | 0.3728 (Neutral) |
| Entrez Gene ID | 284395 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC284395 (GeneCards) |
| Number of variants in LOC284395 in this database | 3 (view all the variants) |
| Full name | uncharacterized LOC284395 |
| Band | 19q12 |
| Other IDs | Ensembl: ENSG00000264515 |
| 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 |