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PTPRQ

From SNPedia

is agene
is mentioned by
Full nameprotein tyrosine phosphatase, receptor type, Q
EntrezGene374462
PheGenI374462
VariationViewer374462
ClinVarPTPRQ
GeneCardsPTPRQ
dbSNP374462
DiseasesPTPRQ
SADR374462
HugeNav374462
wikipediaPTPRQ
googlePTPRQ
gopubmedPTPRQ
EVSPTPRQ
HEFalMpPTPRQ
MyGene2PTPRQ
23andMePTPRQ
OMIM603317
# SNPs7
 Max MagnitudeChromosome positionSummary
rs147541734380,506,078
rs183258549380,460,829
rs190166486380,539,915
rs281865414380,460,707
rs61729287380,484,531
rs749210663380,669,467
rs886043240080,620,153

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
rs183258549 80460829 c.837T>A, p.Tyr279Ter c.1491T>A, p.Tyr497Ter
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 25919374OA-icon.png],[PMID 25788564OA-icon.png],[PMID 25557914]

  • = actual alignment of sequence reported in publication with GRCh38 reference is different than reported