| Variant ID | 27489 |
|---|---|
| Entrez Gene ID | 160313 |
| Gene | KRT19P2 (GeneCards) |
| Location | hg19 12:95253888-95253888
hg38 12:94860112-94860112 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.95253888 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1431 |
| CADD Raw score (version 1.3) | 0.76457 (Deleterious) |
| FATHMM raw prediction score | 0.26241 (Tolerated) |
| Deleterious probability by DeFine | 0.5652 (Deleterious) |
| Entrez Gene ID | 160313 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT19P2 (GeneCards) |
| Number of variants in KRT19P2 in this database | 6 (view all the variants) |
| Full name | keratin 19 pseudogene 2 |
| Band | 12q22 |
| Other IDs | HGNC: HGNC:33423 Ensembl: ENSG00000216306 |
| Other names | KRT19P5 |
| 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 |