| Variant ID | 19217 |
|---|---|
| Entrez Gene ID | 58472 |
| Gene | SQRDL (GeneCards) |
| Location | hg19 15:46235737-46235737
hg38 15:45943539-45943539 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.46235737 C>T (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7439 |
| CADD Raw score (version 1.3) | 1.86983 (Deleterious) |
| FATHMM raw prediction score | 0.62891 (Tolerated) |
| Deleterious probability by DeFine | 0.6057 (Deleterious) |
| Entrez Gene ID | 58472 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SQRDL (GeneCards) |
| Number of variants in SQOR in this database | 27 (view all the variants) |
| Full name | sulfide quinone oxidoreductase |
| Band | 15q21.1 |
| Other IDs | Vega: OTTHUMG00000131476 OMIM: 617658 HGNC: HGNC:20390 Ensembl: ENSG00000137767 |
| Other names | SQR, SQRDL, CGI-44, PRO1975 |
| Summary | The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012] |
| Individual ID | 29217584.17 (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; |