| Variant ID | 26242 |
|---|---|
| Entrez Gene ID | 54511 |
| Gene | HMGCLL1 (GeneCards) |
| Location | hg19 6:55311526-55311526
hg38 6:55446728-55446728 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.55311526 A>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 | 0.1999 |
| CADD Raw score (version 1.3) | 0.008997 (Deleterious) |
| FATHMM raw prediction score | 0.3211 (Tolerated) |
| Deleterious probability by DeFine | 0.2363 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |