| Variant ID | 1066 |
|---|---|
| Entrez Gene ID | 127707 |
| Gene | KLHDC7A (GeneCards) |
| Location | hg19 1:18808759-18808759
hg38 1:18482265-18482265 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.18808759 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 428 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6892263 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 1.1161 |
| CADD Raw score (version 1.3) | 0.497845 (Deleterious) |
| FATHMM raw prediction score | 0.91452 (Tolerated) |
| Deleterious probability by DeFine | 0.9375 (Deleterious) |
| Entrez Gene ID | 127707 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHDC7A (GeneCards) |
| Number of variants in KLHDC7A in this database | 4 (view all the variants) |
| Full name | kelch domain containing 7A |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002431 HGNC: HGNC:26791 Ensembl: ENSG00000179023 |
| 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; |