| Variant ID | 4650 |
|---|---|
| Entrez Gene ID | 64091 |
| Gene | POPDC2 (GeneCards) |
| Location | hg19 3:119365800-119365800
hg38 3:119646953-119646953 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.119365800 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3638 |
| CADD Raw score (version 1.3) | 0.311351 (Deleterious) |
| FATHMM raw prediction score | 0.27491 (Tolerated) |
| Deleterious probability by DeFine | 0.4439 (Neutral) |
| Entrez Gene ID | 64091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POPDC2 (GeneCards) |
| Number of variants in POPDC2 in this database | 2 (view all the variants) |
| Full name | popeye domain containing 2 |
| Band | 3q13.33 |
| Other IDs | Vega: OTTHUMG00000159438 OMIM: 605823 HGNC: HGNC:17648 Ensembl: ENSG00000121577 |
| Other names | POP2 |
| Summary | This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |