| Variant ID | 4383 |
|---|---|
| Entrez Gene ID | 101060091 |
| Gene | LOC101060091 (GeneCards) |
| Location | hg19 2:114597909-114597909
hg38 2:113840332-113840332 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.114597909 G>A (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 | -0.7745 |
| CADD Raw score (version 1.3) | -0.582858 (Deleterious) |
| FATHMM raw prediction score | 0.0384 (Tolerated) |
| Deleterious probability by DeFine | 0.5665 (Deleterious) |
| Entrez Gene ID | 101060091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC101060091 (GeneCards) |
| Number of variants in ACTR3-AS1 in this database | 3 (view all the variants) |
| Full name | ACTR3 antisense RNA 1 |
| Band | 2q14.1 |
| Other IDs | HGNC: HGNC:53965 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |