PTPRQ
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | protein tyrosine phosphatase, receptor type, Q |
| EntrezGene | 374462 |
| PheGenI | 374462 |
| VariationViewer | 374462 |
| ClinVar | PTPRQ |
| GeneCards | PTPRQ |
| dbSNP | 374462 |
| Diseases | PTPRQ |
| SADR | 374462 |
| HugeNav | 374462 |
| wikipedia | PTPRQ |
| PTPRQ | |
| gopubmed | PTPRQ |
| EVS | PTPRQ |
| HEFalMp | PTPRQ |
| MyGene2 | PTPRQ |
| 23andMe | PTPRQ |
| OMIM | 603317 |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs147541734 | 3 | 80,506,078 | |
| rs183258549 | 3 | 80,460,829 | |
| rs190166486 | 0 | 80,539,915 | |
| rs281865414 | 3 | 80,460,707 | |
| rs61729287 | 3 | 80,484,531 | |
| rs749210663 | 0 | 80,669,467 | |
| rs886043240 | 0 | 80,620,153 |
Certain variants in the PTPRQ gene are associated with a recessively inherited form of deafness; DFNB84
Much of the scientific literature about the PTPRQ gene uses a different reference ("splice variant III"; "S.V. III" as shown below) than ClinVar does. To show the correspondence, the following table shows both when possible:
| rsid | 23andMe term | GRCh38, ch12 position | ClinVar synonyms | S.V. III synonyms | On chip? |
|---|---|---|---|---|---|
| 80444366_7 | c.16_17insT, p.Leu8fsX18 | ||||
| 80445493 | c.166C>G, p.Pro56Ala | ||||
| 80484507 | c.1261C>T, p.Arg421Ter | ||||
| rs61729287 | 80484531 | c.1285C>T, p.Gln429Ter | |||
| rs281865414 | 80460707 | c.715A>G, p.Arg239Gly | c.1369A>G, p.Arg457Gly | Ancestry v2, Ancestry v2c, Ancestry v2d | |
| rs183258549 | 80460829 | c.837T>A, p.Tyr279Ter | c.1491T>A, p.Tyr497Ter | Ancestry v2d | |
| 80534062 | c.2714delA, p.Glu909fsX922 | ||||
| rs190166486 | 80539915 | c.3125A>G, p.Asp1042Gly | |||
| rs147541734 | 80506078 | c.2327T>C, p.Ile776Thr | c.4046T>C?, p.Met1349Thr?* | ||
| 80649626 | c.5981A>G, p.Glu1994Gly | ||||
| rs749210663 | 80669467 | c.6453+3delA |
Sources: ClinVar,[PMID 25919374
],[PMID 25788564],[PMID 25557914]
- = actual alignment of sequence reported in publication with GRCh38 reference is different than reported
