LOVD - Variant listings for PEX2

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- 4 -58G>T - PEX2_00010 - PEX2_T001 normal Steinberg 2004 DNA SEQ - 1
- 4 -58G>T - PEX2_00010 - PEX2_T002 normal: non-PEX2 PBD Steinberg 2004 DNA SEQ Frequency is an estimate based on < 100 chromosomes. 1
- 4 24G>A Ala8Ala PEX2_00011 - PEX2_T003 normal dbSNP DNA SEQ "A" allele was detected in Sub-Saharan African and African American populations only with a frequency of 0.158-0.174. 1
- 4 115C>T
    + 115C>T
Gln39X
    + Gln39X
PEX2_00014 - PEX2_05205 ZS Krause 2006 DNA SEQ - 1
- 4 163 G>A
    + 355C>T
Glu55Lys
    + Arg119X
PEX2_00004 - PEX2_05032 IRD Imamura 1998 - SEQ - 1
- 4 209A>G Tyr70Cys PEX2_00012 - PEX2_T004 normal dbSNP DNA SEQ Cauacasian and African American test population of 76 chromosomes. 1
- 4 273delT
    + 273delT
Pro91fs
    + Pro91fs
PEX2_00001 - PEX2_00637 ZS Steinberg 2004 DNA SEQ - 1
- 4 279_283delGAGAT
    + 279_283delGAGAT
Arg94fs
    + Arg94fs
PEX2_00007 - PEX2_05038 ZS Gootjes 2003 DNA SEQ - 1
- 4 355C>T
    + 355C>T
Arg119X
    + Arg119X
PEX2_00002 - PEX2_00628 ZS Steinberg 2004 DNA SEQ - 1
- 4 355C>T
    + 355C>T
Arg119X
    + Arg119X
PEX2_00002 - PEX2_00657 ZS Steinberg 2004 DNA SEQ - 1
- 4 355C>T
    + 355C>T
Arg119X
    + Arg119X
PEX2_00002 - PEX2_00661 ZS Steinberg 2004 DNA SEQ - 1
- 4 355C>T
    + 355C>T
Arg119X
    + Arg119X
PEX2_00002 - PEX2_05030 ZS Shimozawa 1992 RNA SEQ - 1
- 4 355C>T
    + 373C>T
Arg119X
    + Arg125X
PEX2_00002 - PEX2_05031 ZS Shimozawa 1998 DNA SEQ - 1
- 4 355C>T
    + 163 G>A
Arg119X
    + Glu55Lys
PEX2_00002 - PEX2_05032 IRD Imamura 1998 - SEQ - 1
- 4 355C>T
    + 355C>T
Arg119X
    + Arg119X
PEX2_00002 - PEX2_05037 ZS Gootjes 2003 DNA SEQ - 1
- 4 373C>T
    + 373C>T
Arg125X
    + Arg125X
PEX2_00003 - PEX2_00639 ZS Steinberg 2004 DNA SEQ - 1
- 4 373C>T
    + 355C>T
Arg125X
    + Arg119X
PEX2_00003 - PEX2_05031 ZS Shimozawa 1998 DNA SEQ - 1
- 4 477G>A Gln159Gln PEX2_00013 - PEX2_T005 normal dbSNP DNA SEQ Test population is 74 chromosomes, Caucasian and African American. 1
- 4 550delC
    + 550delC
Arg184fs
    + Arg184fs
PEX2_00006 - PEX2_05034 ZS Shimozawa 2000 DNA SEQ - 1
- 4 642delG
    + 642delG
Gln214fs
    + Gln214fs
PEX2_00005 - PEX2_05033 IRD Shimozawa 2000 DNA SEQ - 1
- 4 669G>A
    + 669G>A
Trp223X
    + Trp223X
PEX2_00008 - PEX2_05036 IRD Gootjes 2003 DNA SEQ - 1
- 4 739T>C
    + 739T>C
Cys247Arg
    + Cys247Arg
PEX2_00009 - PEX2_05035 ZS Gootjes 2003 DNA SEQ - 1
- 4 834_838delTACTT
    + 834_838delTACTT
Phe278LeufsX3
    + Phe278LeufsX3
PEX2_00015 - PEX2_05206 ZS Krause 2006 DNA SEQ - 1
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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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 Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported