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, Ancestry v2d |
| 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, Ancestry v2d |
| rs104894437 | i5000655 | c.401A>T (p.Asp134Val) | AD | 55332097 | 600225.0002 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs104894441 | c.404T>A (p.Ile135Lys) | AD | 55332094 | 600225.0015 | Ancestry v2, Ancestry v2c, Ancestry v2d | |
| c. (p.Ile135Thr) | AD | |||||
| c. (p.Met137Arg) | ||||||
| rs104894440 | i5000651 | c.431A>C (p.His144Pro) | AD | 55332067 | 600225.0008 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| 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, Ancestry v2d |
| rs104894436 | i5000649 | c.586G>T (p.ALA196Ser) | AD | 55312526 | 600225.0014 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs137852633 | c.595C>G (p.Pro199Ala) | AR | 55312517 | 600225.0022 | Ancestry v2, Ancestry v2c, Ancestry v2d | |
| rs104894438 | i5000654 | c.602G>A (p.Gly201Glu) | AD | 55312510 | 600225.0004 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs988395114 | c.607G>A (p.Gly203Arg) | AD | 553312505 | |||
| rs200891969 | c.610G>A (p.Val204Ile) | AD | 55312502 | Ancestry v2, Ancestry v2d | ||
| rs104894443 | c.633G>A (p.Met211Ile) | AR | 55310855 | 600225.0017 | Ancestry v2, Ancestry v2c, Ancestry v2d | |
| rs104894434 | i5000652 | c.662T>C (p.Met221Thr) | AR | 55310826 | 600225.0011 | Ancestry v2, Ancestry v2d |
| rs41298442 | c.671A>G (p.Lys224Arg) | AD | 55310817 | 600225.0013 | FamilyTreeDNA, 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, FTDNA2, 23andMe v2, Ancestry v2d | |
| c. (p.Met230Ile) | AD | |||||
| rs104894442 | c.747G>C (p.Arg249Ser) | AR | 55310741 | 600225.0016 | Ancestry v2, Ancestry v2d | |
| c.706G>T (p.Glu236*) | AD |
