| Variant ID | 881 |
|---|---|
| Entrez Gene ID | 54915 |
| Gene | YTHDF1 (GeneCards) |
| Location | hg19 20:61834065-61834065
hg38 20:63202713-63202713 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.61834065 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 409 |
| Amino acid changes in protein | S > S |
| 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 | 1.3589 |
| CADD Raw score (version 1.3) | 0.959975 (Deleterious) |
| FATHMM raw prediction score | 0.93297 (Tolerated) |
| Deleterious probability by DeFine | 0.9552 (Deleterious) |
| Entrez Gene ID | 54915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YTHDF1 (GeneCards) |
| Number of variants in YTHDF1 in this database | 2 (view all the variants) |
| Full name | YTH N6-methyladenosine RNA binding protein 1 |
| Band | 20q13.33 |
| Other IDs | Vega: OTTHUMG00000032955 OMIM: 616529 HGNC: HGNC:15867 Ensembl: ENSG00000149658 |
| Other names | C20orf21 |
| Summary | None |
| Individual ID | 27788131.01 (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; |