| Variant ID | 819 |
|---|---|
| Entrez Gene ID | 100288413 |
| Gene | ERVMER34-1 (GeneCards) |
| Location | hg19 4:53611409-53611409
hg38 4:52745242-52745242 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.53611409 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 93 |
| Amino acid changes in protein | S > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1209 |
| CADD Raw score (version 1.3) | 0.087733 (Deleterious) |
| FATHMM raw prediction score | 0.12788 (Tolerated) |
| Deleterious probability by DeFine | 0.5363 (Deleterious) |
| Entrez Gene ID | 100288413 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERVMER34-1 (GeneCards) |
| Number of variants in ERVMER34-1 in this database | 1 (view all the variants) |
| Full name | endogenous retrovirus group MER34 member 1, envelope |
| Band | 4q12 |
| Other IDs | Vega: OTTHUMG00000150366 HGNC: HGNC:42970 Ensembl: ENSG00000226887 |
| Other names | HEMO, envMER34 |
| 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; |