LOVD - Variant listings for RAB18

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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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DNA MLPA 2 Exon 2 deletion
  (Reported 2 times)
- - - - RAB18_00005
DNA SEQ 2 c.71T>A
  (Reported 8 times)
- p.Leu24Gln - - RAB18_00001
DNA SEQ 5 c.277_279 del - p.Arg93 del - - RAB18_00007
DNA SEQ 5 c.284C>G
  (Reported 2 times)
- p.Thr95Arg - - RAB18_00008
DNA SEQ 7 c.619T>C - p.*207Glnext*20 - - RAB18_00006
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Legend: [ RAB18 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. RAB18 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.