| Variant ID | 903 |
|---|---|
| Entrez Gene ID | 51230 |
| Gene | PHF20 (GeneCards) |
| Location | hg19 20:34528918-34528918
hg38 20:35940996-35940996 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.34528918 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 949 |
| Amino acid changes in protein | L > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7638 |
| CADD Raw score (version 1.3) | 6.718888 (Deleterious) |
| FATHMM raw prediction score | 0.96136 (Tolerated) |
| SIFT score | 0.055 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.175 (Deleterious) |
| PROVEAN score | -1.54 (Tolerated) |
| MetaSVM score | -0.823 (Tolerated) |
| MetaLR score | 0.214 (Tolerated) |
| MCAP score | 0.031 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.14 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.085 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.86 |
| Deleterious probability by iFish2 | 0.1628 (Neutral) |
| Deleterious probability by DeFine | 0.963 (Deleterious) |
| Entrez Gene ID | 51230 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHF20 (GeneCards) |
| Number of variants in PHF20 in this database | 1 (view all the variants) |
| Full name | PHD finger protein 20 |
| Band | 20q11.22-q11.23 |
| Other IDs | Vega: OTTHUMG00000032367 OMIM: 610335 HGNC: HGNC:16098 Ensembl: ENSG00000025293 |
| Other names | NZF, TZP, GLEA2, HCA58, TDRD20A, C20orf104 |
| 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; |