| Variant ID | 28965 |
|---|---|
| Entrez Gene ID | 80316 |
| Gene | PPP1R2P9 (GeneCards) |
| Location | hg19 X:42722626-42722626
hg38 X:42863377-42863377 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.42722626 C>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.200648 (Deleterious) |
| FATHMM raw prediction score | 0.10549 (Tolerated) |
| Deleterious probability by DeFine | 0.2898 (Neutral) |
| Entrez Gene ID | 80316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP1R2P9 (GeneCards) |
| Number of variants in PPP1R2C in this database | 3 (view all the variants) |
| Full name | PPP1R2C family member C |
| Band | Xp11.3 |
| Other IDs | Vega: OTTHUMG00000021382 HGNC: HGNC:16324 Ensembl: ENSG00000102055 |
| Other names | I-4, PPP1R2P9 |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |