LOVD - Variant listings for PEX2

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15 entries
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Exon Hide Exon column Descending
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DNA:Allele 1   Descending
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Protein Hide Protein column Descending
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Variant/DBID Hide Variant/DBID column Descending
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Variant remarks Hide Variant remarks column Descending
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4 -58G>T
  (Reported 2 times)
- PEX2_00010 -
4 24G>A Ala8Ala PEX2_00011 -
4 115C>T
  (Reported 2 times)
Gln39X PEX2_00014 -
4 163 G>A Glu55Lys PEX2_00004 -
4 209A>G Tyr70Cys PEX2_00012 -
4 273delT
  (Reported 2 times)
Pro91fs PEX2_00001 -
4 279_283delGAGAT
  (Reported 2 times)
Arg94fs PEX2_00007 -
4 355C>T
  (Reported 12 times)
Arg119X PEX2_00002 -
4 373C>T
  (Reported 3 times)
Arg125X PEX2_00003 -
4 477G>A Gln159Gln PEX2_00013 -
4 550delC
  (Reported 2 times)
Arg184fs PEX2_00006 -
4 642delG
  (Reported 2 times)
Gln214fs PEX2_00005 -
4 669G>A
  (Reported 2 times)
Trp223X PEX2_00008 -
4 739T>C
  (Reported 2 times)
Cys247Arg PEX2_00009 -
4 834_838delTACTT
  (Reported 2 times)
Phe278LeufsX3 PEX2_00015 -
1 - 15

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Phenotypes based on age at testing and biochemistry, sometimes clinical data is also included.



Legend: [ PEX2 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.
Exon: Exon numbering. DNA:Allele 1: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Protein: Variation at protein level. PEX2 Variant/DBID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks