| Variant ID | 6557 |
|---|---|
| Entrez Gene ID | 5161 |
| Gene | PDHA2 (GeneCards) |
| Location | hg19 4:98228450-98228450
hg38 4:97307299-97307299 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.98228450 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5255 |
| CADD Raw score (version 1.3) | -0.424319 (Deleterious) |
| FATHMM raw prediction score | 0.06011 (Tolerated) |
| Deleterious probability by DeFine | 0.2447 (Neutral) |
| Entrez Gene ID | 5161 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDHA2 (GeneCards) |
| Number of variants in PDHA2 in this database | 23 (view all the variants) |
| Full name | pyruvate dehydrogenase E1 alpha 2 subunit |
| Band | 4q22.3 |
| Other IDs | Vega: OTTHUMG00000130990 OMIM: 179061 HGNC: HGNC:8807 Ensembl: ENSG00000163114 |
| Other names | PDHAL |
| Summary | None |
| 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; |