| Variant ID | 28252 |
|---|---|
| Entrez Gene ID | 644139 |
| Gene | PIRT (GeneCards) |
| Location | hg19 17:10899962-10899962
hg38 17:10996645-10996645 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000017.10:g.10899962 G>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0532 |
| CADD Raw score (version 1.3) | -0.343531 (Deleterious) |
| FATHMM raw prediction score | 0.13636 (Tolerated) |
| Deleterious probability by DeFine | 0.413 (Neutral) |
| Entrez Gene ID | 644139 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIRT (GeneCards) |
| Number of variants in PIRT in this database | 6 (view all the variants) |
| Full name | phosphoinositide interacting regulator of transient receptor potential channels |
| Band | 17p12 |
| Other IDs | Vega: OTTHUMG00000178234 OMIM: 612068 HGNC: HGNC:37239 Ensembl: ENSG00000233670 |
| Other names | None |
| 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 |