LOVD - Variant listings for RAB3GAP2

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10 entries
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein change Hide Protein change column Descending
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RE Site Hide RE Site column Descending
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DB-ID Hide DB-ID column Descending
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DNA SEQ 2 c.147G>A
  (Reported 2 times)
- p.Trp49* - - RAB3GAP2_00006
DNA SEQ 5 c.407_408insT
  (Reported 2 times)
- p.Cys137Metfs*16 - - RAB3GAP2_00002
DNA SEQ 6 c.499_507delTTCTACACT
  (Reported 2 times)
- p.Phe167_Thr169del - - RAB3GAP2_00008
DNA SEQ 7 c.589C>T
  (Reported 2 times)
- p.Arg197* - - RAB3GAP2_00007
DNA SEQ 14 c.1276C>T
  (Reported 4 times)
- p.Arg426Cys - - RAB3GAP2_00001
DNA SEQ 14 c.1434G>A
  (Reported 2 times)
- p.Trp478* - - RAB3GAP2_00004
DNA SEQ 20 c.2178_2181delAAAG
  (Reported 2 times)
- p.Lys728* - - RAB3GAP2_00003
DNA SEQ 26 c.3085G>T
  (Reported 2 times)
- p.Glu1029 - - RAB3GAP2_00010
RNA RT-PCR 27 c.3154G>T
  (Reported 2 times)
- p.Gly1051Cys - - RAB3GAP2_00005
DNA SEQ 32 c.3637C>T
  (Reported 2 times)
- p.Arg1213* - - RAB3GAP2_00009
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Legend: [ RAB3GAP2 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.
Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism. RAB3GAP2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.