| Variant ID | 25212 |
|---|---|
| Entrez Gene ID | 30849 |
| Gene | PIK3R4 (GeneCards) |
| Location | hg19 3:130559137-130559137
hg38 3:130840293-130840293 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000003.11:g.130559137 T>C (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) | 0.00003229 |
|---|---|
| EIGEN score | 0.4258 |
| CADD Raw score (version 1.3) | 0.131346 (Deleterious) |
| FATHMM raw prediction score | 0.17974 (Tolerated) |
| Deleterious probability by DeFine | 0.5729 (Deleterious) |
| Entrez Gene ID | 30849 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3R4 (GeneCards) |
| Number of variants in PIK3R4 in this database | 2 (view all the variants) |
| Full name | phosphoinositide-3-kinase regulatory subunit 4 |
| Band | 3q22.1 |
| Other IDs | Vega: OTTHUMG00000159645 OMIM: 602610 HGNC: HGNC:8982 Ensembl: ENSG00000196455 |
| Other names | p150, VPS15 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |