| Variant ID | 15817 |
|---|---|
| Entrez Gene ID | 222 |
| Gene | ALDH3B2 (GeneCards) |
| Location | hg19 11:67494285-67494285
hg38 11:67726814-67726814 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.67494285 G>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3211 |
| CADD Raw score (version 1.3) | -0.113566 (Deleterious) |
| FATHMM raw prediction score | 0.05212 (Tolerated) |
| Deleterious probability by DeFine | 0.1351 (Neutral) |
| Entrez Gene ID | 222 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALDH3B2 (GeneCards) |
| Number of variants in ALDH3B2 in this database | 3 (view all the variants) |
| Full name | aldehyde dehydrogenase 3 family member B2 |
| Band | 11q13.2 |
| Other IDs | Vega: OTTHUMG00000167284 OMIM: 601917 HGNC: HGNC:411 Ensembl: ENSG00000132746 |
| Other names | ALDH8 |
| Summary | This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017] |
| 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; |