| Variant ID | 19801 |
|---|---|
| Entrez Gene ID | 728224 |
| Gene | KRTAP4-8 (GeneCards) |
| Location | hg19 17:39259703-39259703
hg38 17:41103451-41103451 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.39259703 T>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1601 |
| CADD Raw score (version 1.3) | 0.490839 (Deleterious) |
| FATHMM raw prediction score | 0.19181 (Tolerated) |
| Deleterious probability by DeFine | 0.1196 (Neutral) |
| Entrez Gene ID | 728224 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRTAP4-8 (GeneCards) |
| Number of variants in KRTAP4-8 in this database | 1 (view all the variants) |
| Full name | keratin associated protein 4-8 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000133580 HGNC: HGNC:17230 Ensembl: ENSG00000204880 |
| Other names | KAP4.8, KRTAP4.8 |
| Summary | None |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |