| Variant ID | 10053 |
|---|---|
| Entrez Gene ID | 79627 |
| Gene | OGFRL1 (GeneCards) |
| Location | hg19 6:72034571-72034571
hg38 6:71324868-71324868 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.72034571 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1589 |
| CADD Raw score (version 1.3) | 0.535408 (Deleterious) |
| FATHMM raw prediction score | 0.1573 (Tolerated) |
| Deleterious probability by DeFine | 0.3463 (Neutral) |
| Entrez Gene ID | 79627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OGFRL1 (GeneCards) |
| Number of variants in OGFRL1 in this database | 3 (view all the variants) |
| Full name | opioid growth factor receptor like 1 |
| Band | 6q13 |
| Other IDs | Vega: OTTHUMG00000015000 HGNC: HGNC:21378 Ensembl: ENSG00000119900 |
| Other names | dJ331H24.1 |
| Summary | None |
| Individual ID | 29217584.16 (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; |