| Variant ID | 4559 |
|---|---|
| Entrez Gene ID | 100506457 |
| Gene | LOC100506457 (GeneCards) |
| Location | hg19 2:12199107-12199107
hg38 2:12058981-12058981 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.12199107 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0341 |
| CADD Raw score (version 1.3) | 0.480389 (Deleterious) |
| FATHMM raw prediction score | 0.11285 (Tolerated) |
| Deleterious probability by DeFine | 0.4608 (Neutral) |
| Entrez Gene ID | 100506457 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC100506457 (GeneCards) |
| Number of variants in MIR3681HG in this database | 7 (view all the variants) |
| Full name | MIR3681 host gene |
| Band | 2p24.3 |
| Other IDs | HGNC: HGNC:52001 Ensembl: ENSG00000224184 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |