| Variant ID | 1143 |
|---|---|
| Entrez Gene ID | 3275 |
| Gene | PRMT2 (GeneCards) |
| Location | hg19 21:48069644-48069644
hg38 21:46649732-46649732 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000021.8:g.48069644 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 216 |
| Amino acid changes in protein | C > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0907 |
| CADD Raw score (version 1.3) | 4.793908 (Deleterious) |
| FATHMM raw prediction score | 0.98404 (Tolerated) |
| SIFT score | 0.429 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.635 (Tolerated) |
| PROVEAN score | -2.58 (Deleterious) |
| MetaSVM score | -1.079 (Tolerated) |
| MetaLR score | 0.067 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.191 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.116 |
| Deleterious probability by iFish2 | 0.5083 (Deleterious) |
| Deleterious probability by DeFine | 0.9747 (Deleterious) |
| Entrez Gene ID | 3275 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRMT2 (GeneCards) |
| Number of variants in PRMT2 in this database | 3 (view all the variants) |
| Full name | protein arginine methyltransferase 2 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000048806 OMIM: 601961 HGNC: HGNC:5186 Ensembl: ENSG00000160310 |
| Other names | HRMT1L1 |
| 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; |