| Variant ID | 1128 |
|---|---|
| Entrez Gene ID | 54758 |
| Gene | KLHDC4 (GeneCards) |
| Location | hg19 16:87760455-87760455
hg38 16:87726849-87726849 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.87760455 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 225 |
| Amino acid changes in protein | G > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1262 |
| CADD Raw score (version 1.3) | 0.837707 (Deleterious) |
| FATHMM raw prediction score | 0.23511 (Tolerated) |
| Deleterious probability by DeFine | 0.9613 (Deleterious) |
| Entrez Gene ID | 54758 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHDC4 (GeneCards) |
| Number of variants in KLHDC4 in this database | 1 (view all the variants) |
| Full name | kelch domain containing 4 |
| Band | 16q24.2 |
| Other IDs | Vega: OTTHUMG00000137657 HGNC: HGNC:25272 Ensembl: ENSG00000104731 |
| Other names | None |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |