| Variant ID | 28651 |
|---|---|
| Entrez Gene ID | 3275 |
| Gene | PRMT2 (GeneCards) |
| Location | hg19 21:48055527-48055527
hg38 21:46635615-46635615 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000021.8:g.48055527 C>G (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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3948 |
| CADD Raw score (version 1.3) | 0.718262 (Deleterious) |
| FATHMM raw prediction score | 0.12077 (Tolerated) |
| Deleterious probability by DeFine | 0.5418 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |