| Variant ID | 9485 |
|---|---|
| Entrez Gene ID | 7915 |
| Gene | ALDH5A1 (GeneCards) |
| Location | hg19 6:24523699-24523699
hg38 6:24523471-24523471 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.24523699 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) | 0.00003231 |
|---|---|
| EIGEN score | -0.4452 |
| CADD Raw score (version 1.3) | -0.394965 (Deleterious) |
| FATHMM raw prediction score | 0.08668 (Tolerated) |
| Deleterious probability by DeFine | 0.475 (Neutral) |
| Entrez Gene ID | 7915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALDH5A1 (GeneCards) |
| Number of variants in ALDH5A1 in this database | 2 (view all the variants) |
| Full name | aldehyde dehydrogenase 5 family member A1 |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014356 OMIM: 610045 HGNC: HGNC:408 Ensembl: ENSG00000112294 |
| Other names | SSDH, SSADH |
| Summary | This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |