LOVD - Variant listings for GBA

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273 entries
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DNA change   Descending
Ascending

Protein Hide Protein column Descending
Ascending

dbSNP ID Hide dbSNP ID column Descending
Ascending
c.1224G>A p.T408T rs1141826
c.279G>A p.G93G rs1141816
c.295C>T p.H99Y rs1141818
c.296A>G p.H99R rs1141820
c.300G>C p.T100T rs1141821
c.38A>G p.K31R -
c.44T>C p.L15S rs1141802
c.46A>G p.S16G rs1141804
c.81A>T p.G27G rs1059731
c.108G>A p.W36X -
c.136A>G p.K46E -
c.145G>A p.G49S -
c.152G>T p.S51I -
c.160G>A p.V54M -
c.160G>C p.V54L -
c.164G>C p.C55S -
c.187G>A p.D63N -
c.220G>A p.G74S -
c.226T>G p.F76V -
c.237T>C p.Y79Y rs1141807
c.238G>A
  (Reported 2 times)
p.E80K -
c.242G>A p.S81N -
c.243T>C p.S81S rs1141810
c.245C>G p.T82R rs1141811
c.245C>T p.T82I -
c.247C>A p.R83S rs1141812
c.254G>A p.G85E -
c.256C>T p.R86X -
c.259C>T
  (Reported 2 times)
p.R87W -
c.260G>A p.R87Q -
c.275T>C p.M92T rs1141815
c.314T>C p.L105P -
c.334C>T p.Q112X -
c.337A>T p.K113X -
c.350T>C p.V117A -
c.354G>C p.K118N -
c.371T>C p.M124T -
c.385G>A p.A129T -
c.431T>G p.L144R -
c.437C>T p.S146L -
c.440A>G p.Y147C -
c.442T>G p.F148V -
c.448G>A p.E150K -
c.455G>A p.G152E -
c.466A>G p.N156D -
c.473T>C p.I158T -
c.473T>G p.I158S -
c.475C>T p.R159W -
c.476G>A p.R159Q -
c.479T>C p.V160A -
c.481C>T p.P161S -
c.482C>T p.P161L -
c.484A>G p.M162V -
c.485T>C p.M162T -
c.497A>T p.D166V -
c.508C>A p.R170S -
c.508C>T p.R170C -
c.509G>T p.R170L -
c.517A>C p.T173P -
c.518C>T p.T173I -
c.522T>G p.Y174X -
c.524C>A p.A175E -
c.535G>C p.D179H -
c.572A>C p.E191A -
c.586A>C p.K196Q -
c.588G>T p.K196N -
c.592C>A p.P198T -
c.593C>T p.P198L -
c.599T>A p.I200N -
c.599T>G p.I200S -
c.602A>C p.H201P -
c.604C>T p.R202X -
c.605G>A p.R202Q -
c.622C>T p.Q208X -
c.625C>T p.R209C -
c.626G>C p.R209P -
c.635C>G p.S212X -
c.637C>T p.L213F -
c.638T>C p.L213P -
c.644C>A p.A215D -
c.649C>T p.P217S -
c.653G>A p.W218X -
c.655A>C p.T219P -
c.661C>A p.P221T -
c.662C>T p.P221L -
c.667T>C p.W223R -
c.670C>T p.L224F -
c.680A>G p.N227S -
c.681T>G
  (Reported 2 times)
p.N227K -
c.683G>T p.G228V -
c.685G>A p.A229T -
c.686C>A p.A229E -
c.689T>A
  (Reported 2 times)
p.V230E -
c.689T>G p.V230G -
c.694G>T p.G232W -
c.695G>A p.G232E -
c.700G>T p.G234W -
c.701G>A p.G234E -
c.703T>C
  (Reported 2 times)
p.S235P -
c.706C>T p.L236F -
1 - 100
[<-] 1 2 3 [->]


Legend: [ GBA full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs#