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HSPG2

From SNPedia
is agene
is mentioned by
ClinVarHSPG2
GeneCardsHSPG2
DiseasesHSPG2
wikipediaHSPG2
googleHSPG2
gopubmedHSPG2
EVSHSPG2
HEFalMpHSPG2
MyGene2HSPG2
23andMeHSPG2
# SNPs21
 Max MagnitudeChromosome positionSummary
rs1064795546021,881,369
rs1378532487.821,864,874
rs1874792021,880,742
rs2228349021,841,112
rs2229475021,855,402
rs2229489021,842,352
rs2229491021,842,308
rs2229493021,833,550
rs244514221,899,250
rs35669711021,852,751
rs3736360021,823,627
rs376713721,834,230
rs670125321,841,112
rs745452577121,865,798
rs7622817157.821,833,551
rs7786532967.821,851,790
rs87894921,900,598
rs8860399097.821,864,095
rs8860416677.821,880,518
rs897471021,864,961
rs989994021,880,156

The HSPG2 gene provides instructions for making a protein called perlecan.

Recessively inherited mutations in the HSPG2 gene may lead to Schwartz Jampel syndrome type 1, a rare condition is characterized by continuous muscle contraction (myotonia) that restricts movement, as well as bone abnormalities known as chondrodysplasia.GHR