| Variant ID | 18937 |
|---|---|
| Entrez Gene ID | 256764 |
| Gene | WDR72 (GeneCards) |
| Location | hg19 15:54220533-54220533
hg38 15:53928336-53928336 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.54220533 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3581 |
| CADD Raw score (version 1.3) | -0.105363 (Deleterious) |
| FATHMM raw prediction score | 0.06697 (Tolerated) |
| Deleterious probability by DeFine | 0.0978 (Neutral) |
| Entrez Gene ID | 256764 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR72 (GeneCards) |
| Number of variants in WDR72 in this database | 13 (view all the variants) |
| Full name | WD repeat domain 72 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000131939 OMIM: 613214 HGNC: HGNC:26790 Ensembl: ENSG00000166415 |
| Other names | AI2A3 |
| Summary | This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] |
| Individual ID | 29217584.09 (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; |