LOVD - Variant listings for RAB3GAP1

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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 SEQ - c.150+1G>C - - - - RAB3GAP1_00021
DNA SEQ - c.151-2A>T
  (Reported 2 times)
- - - - RAB3GAP1_00022
RNA RT-PCR - c.648+5G>A
  (Reported 2 times)
- - - - RAB3GAP1_00033
DNA SEQ - c.649-2A>G
  (Reported 4 times)
- - - - RAB3GAP1_00016
DNA SEQ - c.748+1G>A
  (Reported 17 times)
- - - - RAB3GAP1_00010
DNA SEQ - c.899+1G>A
  (Reported 5 times)
- - - - RAB3GAP1_00003
DNA SEQ - c.1237-2A>G
  (Reported 2 times)
- - - - RAB3GAP1_00064
DNA SEQ 1 c.9delC
  (Reported 2 times)
- p.Asp4Thrfs*51 - - RAB3GAP1_00006
DNA SEQ 2 c.52A>C
  (Reported 8 times)
- p.Thr18Pro - - RAB3GAP1_00001
DNA SEQ 2 c.69G>A - p.Trp23* - - RAB3GAP1_00047
DNA SEQ 2 c.71A>T
  (Reported 2 times)
- p.Glu24Val - - RAB3GAP1_00008
DNA SEQ 3 c.82delT
  (Reported 2 times)
- p.Ser28Profs*7 - - RAB3GAP1_00056
DNA SEQ 3 c.129delT
  (Reported 2 times)
- p.Leu44Trpfs*49 - - RAB3GAP1_00044
DNA PCR 4-5 c.151_362del
  (Reported 2 times)
- p.Gly51Valfs*4 - - RAB3GAP1_00045
DNA SEQ 4 c.264_270delAAAGGATinsTTATTA
  (Reported 4 times)
- p.Lys89Tyrfs*2 - - RAB3GAP1_00037
DNA SEQ 4 c.280G>T - p.Glu94* - - RAB3GAP1_00049
DNA SEQ 6 c.401_407delCACACAG - p.Ala134Valfs*14 - - RAB3GAP1_00048
DNA SEQ 6 c.473delA - p.Phe158Thrfs*21 - - RAB3GAP1_00020
DNA SEQ 6 c.475_478delACTG
  (Reported 4 times)
- p.Thr159Alafs*18 - - RAB3GAP1_00009
DNA SEQ 7 c.520C>T - p.Arg174* - - RAB3GAP1_00053
DNA SEQ 7 c.641delC
  (Reported 2 times)
- p.Ser214* - - RAB3GAP1_00055
DNA SEQ 8 c.657delT - p.Leu220* - - RAB3GAP1_00054
DNA SEQ 8 c.665delC
  (Reported 2 times)
- p.Pro222Hisfs*29 - - RAB3GAP1_00039
DNA SEQ 8 c.691C>T - p.Arg231* - - RAB3GAP1_00051
DNA SEQ 8 c.748+2T>G
  (Reported 2 times)
- - - - RAB3GAP1_00042
DNA SEQ 11 c.929G>A - p.Trp310* - - RAB3GAP1_00025
DNA SEQ 12 c.1039C>T
  (Reported 2 times)
- p.Arg347* - - RAB3GAP1_00013
DNA SEQ 12 c.1003delT
  (Reported 2 times)
- p.Cys335Alafs*26 - - RAB3GAP1_00019
DNA SEQ 12 c.1039C>T - p.Arg347* - - RAB3GAP1_00052
DNA SEQ 13 c.1174C>T
  (Reported 2 times)
- p. Arg392* - - RAB3GAP1_00014
DNA SEQ 13 c.1174C>T
  (Reported 2 times)
- p.Arg392* - - RAB3GAP1_00018
DNA SEQ 14 c.1293_1294delTA
  (Reported 2 times)
- p.Asp431Glufs*1 - - RAB3GAP1_00043
DNA SEQ 14 c.1326T>G
  (Reported 2 times)
- p.Tyr442* - - RAB3GAP1_00012
DNA SEQ 15 c.1335delC
  (Reported 2 times)
- p.Tyr445* - - RAB3GAP1_00057
DNA SEQ 15 c.1339C>T
  (Reported 2 times)
- p.Gln447* - - RAB3GAP1_00005
DNA SEQ 15 c.1389T>A - p.Cys463* - - RAB3GAP1_00058
DNA SEQ 15 c.1410C>A
  (Reported 2 times)
- p.Tyr470* - - RAB3GAP1_00036
DNA SEQ 15 c.1417_1423delGGGTTGA
  (Reported 2 times)
- p.Gly473Lysfs*23 - - RAB3GAP1_00060
DNA SEQ 15 c.1471C>T
  (Reported 2 times)
- p.Arg491* - - RAB3GAP1_00032
DNA SEQ 17 c.1725G>A
  (Reported 2 times)
- p.Trp575* - - RAB3GAP1_00046
DNA SEQ 17 c.1734G>A
  (Reported 2 times)
- p.Arg392* - - RAB3GAP1_00024
DNA SEQ 17 c.1786_1789delAAAG
  (Reported 4 times)
- p.Lys596Glufs*18 - - RAB3GAP1_00034
DNA SEQ 18 c.2011C>T
  (Reported 2 times)
- p.Arg671* - - RAB3GAP1_00015
DNA SEQ 18 c.2055_2056insGCTCTCAGATATGGAGTCT - Phe686Alafs*20 - - RAB3GAP1_00062
DNA SEQ 19 c.2103G>A - p.Trp701* - - RAB3GAP1_00059
DNA SEQ 20 c.2343_2347delACCTT
  (Reported 2 times)
- p.Pro782Cysfs*22 - - RAB3GAP1_00023
DNA SEQ 22 c.2491G>T
  (Reported 2 times)
- p. Glu831* - - RAB3GAP1_00063
DNA SEQ 23 c.2629C>T
  (Reported 2 times)
- p.Gln877* - - RAB3GAP1_00061
DNA SEQ 24 c.2710_2946del
  (Reported 2 times)
- p.Arg904_*982del - - RAB3GAP1_00065
DNA SEQ 24 c. 2801delC
  (Reported 6 times)
- p.Pro934Leufs*87 - - RAB3GAP1_00027
DNA SEQ 24 c.2865_2868insTTCT
  (Reported 2 times)
- Pro955Serfs*15 - - RAB3GAP1_00007
1 - 51

Legend: [ RAB3GAP1 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. RAB3GAP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.