| Variant ID | 1015 |
|---|---|
| Entrez Gene ID | 8424 |
| Gene | BBOX1 (GeneCards) |
| Location | hg19 11:27077037-27077037
hg38 11:27055490-27055490 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.27077037 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 20 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0761 |
| CADD Raw score (version 1.3) | 1.15432 (Deleterious) |
| FATHMM raw prediction score | 0.77019 (Tolerated) |
| Deleterious probability by DeFine | 0.7251 (Deleterious) |
| Entrez Gene ID | 8424 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BBOX1 (GeneCards) |
| Number of variants in BBOX1 in this database | 1 (view all the variants) |
| Full name | gamma-butyrobetaine hydroxylase 1 |
| Band | 11p14.2 |
| Other IDs | Vega: OTTHUMG00000166121 OMIM: 603312 HGNC: HGNC:964 Ensembl: ENSG00000129151 |
| Other names | BBH, BBOX, G-BBH, gamma-BBH |
| Summary | This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |