| Variant ID | 10219 |
|---|---|
| Entrez Gene ID | 54511 |
| Gene | HMGCLL1 (GeneCards) |
| Location | hg19 6:55421991-55421991
hg38 6:55557193-55557193 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.55421991 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1578 |
| CADD Raw score (version 1.3) | -0.230149 (Deleterious) |
| FATHMM raw prediction score | 0.04651 (Tolerated) |
| Deleterious probability by DeFine | 0.5232 (Deleterious) |
| Entrez Gene ID | 54511 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMGCLL1 (GeneCards) |
| Number of variants in HMGCLL1 in this database | 6 (view all the variants) |
| Full name | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000014902 HGNC: HGNC:21359 Ensembl: ENSG00000146151 |
| Other names | er-cHL, bA418P12.1 |
| Summary | None |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |