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GCH1 DRD Variants

From SNPedia

This page represents a work in progress, intended to systematically organize all variants in the GCH1 gene reported in the literature as leading to dopa-responsive dystonia (DRD).

rsid 23andMe term synonyms (c. or p.) MOI (AD/AR) GRCh37.p13 pos. OMIM On chip?
rs104894439 c.3G>C (p.Met1Ile) AD 55369379 600225.0007
c.2T>C (p.Met1Thr) AD
rs104894444 i5000645 c.142C>A (p.Gln48Ter) AD 55369240 600225.00018 Ancestry v2
rs886041708 c.159G>A (p.Trp53Ter) AD 55369223
rs753312849 c.175C>T (p.Arg59Gly) AR 55369207
n/a c.181G>T p.Glu61Ter AD
rs961694546 c.225C>T (p.Tyr75Cys) AD 55369157
rs770547722 c.239G>A (p.Ser80Asn) AD 55369143
c. (p.Leu82Pro)
c.245T>C (p. )
rs1263510185 c.252G>A (p.Glu84Term) AD 55369130
rs104894433 c.262C>T (p.Arg88Trp) AD 55369120 600225.0001
c.263G>T (p.Arg88Leu) AD
c. (p.Thr94Met)
c.283C>T (p.Pro95Ser) CH/AR
c. (p.ALa98Val) AD
rs104894435 i5000650 c.323G>A (p.Gly108Asp) AD 55369059 600225.0012 Ancestry v2, Ancestry v2c
rs104894437 i5000655 c.401A>T (p.Asp134Val) AD 55332097 600225.0002 Ancestry v2, Ancestry v2c
rs104894441 c.404T>A (p.Ile135Lys) AD 55332094 600225.0015 Ancestry v2, Ancestry v2c
c. (p.Ile135Thr) AD
c. (p.Met137Arg)
rs104894440 i5000651 c.431A>C (p.His144Pro) AD 55332067 600225.0008 Ancestry v2, Ancestry v2c
c. (p.Gly155Ser)
n/a c.544C>T p.Glu182Ter AD
c.550G>A (p.Arg184Cys) AD
c.557C>A p.Thr186Lys AD
rs104894445 i5000644 c.551G>A (p.Arg184His) AR 55312561 600225.0020 Ancestry v2, Ancestry v2c
rs104894436 i5000649 c.586G>T (p.ALA196Ser) AD 55312526 600225.0014 Ancestry v2, Ancestry v2c
rs137852633 c.595C>G (p.Pro199Ala) AR 55312517 600225.0022 Ancestry v2, Ancestry v2c
rs104894438 i5000654 c.602G>A (p.Gly201Glu) AD 55312510 600225.0004 Ancestry v2, Ancestry v2c
rs988395114 c.607G>A (p.Gly203Arg) AD 553312505
rs200891969 c.610G>A (p.Val204Ile) AD 55312502 Ancestry v2
rs104894443 c.633G>A (p.Met211Ile) AR 55310855 600225.0017 Ancestry v2, Ancestry v2c
rs104894434 i5000652 c.662T>C (p.Met221Thr) AR 55310826 600225.0011 Ancestry v2
rs41298442 c.671A>G (p.Lys224Arg) AD 55310817 600225.0013 23andMe v2, 23andMe v3, FTDNA2, FamilyTreeDNA, 23andMe v4, Ancestry v2, Ancestry v2c
c. (p.Met230Ile) AD
rs104894442 c.747G>C (p.Arg249Ser) AR 55310741 600225.0016 Ancestry v2
c.706G>T (p.Glu236*) AD