| Variant ID | 16868 |
|---|---|
| Entrez Gene ID | 54477 |
| Gene | PLEKHA5 (GeneCards) |
| Location | hg19 12:19398833-19398833
hg38 12:19245899-19245899 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.19398833 T>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0358 |
| CADD Raw score (version 1.3) | 0.360625 (Deleterious) |
| FATHMM raw prediction score | 0.11796 (Tolerated) |
| Deleterious probability by DeFine | 0.3238 (Neutral) |
| Entrez Gene ID | 54477 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLEKHA5 (GeneCards) |
| Number of variants in PLEKHA5 in this database | 4 (view all the variants) |
| Full name | pleckstrin homology domain containing A5 |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000167921 OMIM: 607770 HGNC: HGNC:30036 Ensembl: ENSG00000052126 |
| Other names | PEPP2, PEPP-2 |
| Summary | None |
| Individual ID | 29217584.15 (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; |