LOVD - Variant listings for GDAP1

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GDAP1_00001 c.27_28del
  (Reported 2 times)
Deletion Exon 1 Non-specific domain - p.(Gly10Glufs*15) Crimella et al. (2010) SEQ DNA Blood - c.23delAG This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00009 c.92G>A
  (Reported 4 times)
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Trp31*) Baxter et al. (2002) SEQ DNA Blood - - - -
GDAP1_00003 c.101C>G Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(Ser34Cys) Crimella et al. (2010) SEQ DNA Blood - - - -
GDAP1_00047 c.102C>G
  (Reported 2 times)
Substitution Exon 1 GST-N (N-term Glutathione-S-transferase) - p.(=) Sahin-Calapoglu et al. (2009) SEQ DNA Blood - c.102G>C This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00049 c.172_173delinsTTA Insertion/Deletion Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro59Alafs*4) Sevilla et al. (2008) SEQ DNA Blood - - - -
GDAP1_00010 c.174_176delinsTGTG
  (Reported 2 times)
Insertion/Deletion Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro59Valfs*4) Auer-Grumbach et al. (2008) SEQ DNA Blood - - Variation at protein level published as p.Leu58Leufs*4 -
GDAP1_00027 c.233C>T
  (Reported 10 times)
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Pro78Leu) Bouhouche et al. (2007b) SEQ DNA Blood - - - -
GDAP1_00011 c.295C>T
  (Reported 8 times)
Substitution Exon 2 GST-N (N-term Glutathione-S-transferase) - p.(Gln99*) Moroni et al. (2009) SEQ DNA Blood - - - -
GDAP1_00035 c.311-1G>A
  (Reported 2 times)
Substitution Intron 2 - - p.? Kabzinska et al. (2005) SEQ DNA Blood - - - -
GDAP1_00053 c.332C>A Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Pro111His) Chung et al. (2011) SEQ DNA - - - - -
GDAP1_00012 c.341_344del
  (Reported 3 times)
Deletion Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Glu114Alafs*32) Claramunt et al. (2005) SEQ DNA Blood - c.342-345delAAAG This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00028 c.347T>C
  (Reported 6 times)
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Thr) Kabzinska et al. (2006a) SEQ DNA Blood - - - -
GDAP1_00029 c.347T>G
  (Reported 12 times)
Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Met116Arg) Di Maria et al. (2004) SEQ DNA Blood - - - -
GDAP1_00015 c.349dup
  (Reported 4 times)
Duplication Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Tyr117Leufs*13) Senderek et al. (2003) SEQ DNA Blood - c.349_350insT This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00004 c.358C>T
  (Reported 28 times)
Substitution Exon 3 Non-specific domain - p.(Arg120Trp) Claramunt et al. (2005) SEQ DNA Blood - - - -
GDAP1_00031 c.359G>A
  (Reported 2 times)
Substitution Exon 3 Non-specific domain - p.(Arg120Gln) Boerkoel et al. (2003) SEQ DNA Blood - - - -
GDAP1_00032 c.364C>A Substitution Exon 3 Non-specific domain - p.(Gln122Lys) Moroni et al. (2009) SEQ DNA Blood - - - -
GDAP1_00055 c.368A>G
  (Reported 9 times)
Substitution Exon 3 Non-specific domain - p.(His123Arg) Zimon et al. (2011) SEQ DNA blood - c.358A>G An error is assumed in the nucleic mutation description. -
GDAP1_00017 c.373C>T
  (Reported 4 times)
Substitution Exon 3 Non-specific domain - p.(Arg125*) Fusco et al. (2011) SEQ DNA Blood - - - -
GDAP1_00034 c.389C>G Substitution Exon 3 GST-N (N-term Glutathione-S-transferase) - p.(Ser130Cys) Kabzinska et al. (2005) SEQ DNA Blood - - - -
GDAP1_00018 c.439del
  (Reported 4 times)
Deletion Exon 3 Non-specific domain - p.(Thr147Leufs*5) Georgiou et al. (2006) SEQ DNA Blood - - - -
GDAP1_00036 c.445G>T
  (Reported 2 times)
Substitution Exon 3 Non-specific domain - p.(Asp149Tyr) Parman et al. (2004) SEQ DNA Blood - - - -
GDAP1_00037 c.458C>T
  (Reported 4 times)
Substitution Exon 3 alpha4alpha5 loop - p.(Pro153Leu) Kabzinska et al. (2007) SEQ DNA Blood - - - -
GDAP1_00056 c.467C>G
  (Reported 6 times)
Substitution Exon 3 alpha4alpha5 loop - p.(Ala156Gly) Zimon et al. (2011) SEQ DNA blood - - - -
GDAP1_00005 c.469A>C Substitution Exon 3 alpha4alpha5 loop - p.(Thr157Pro) Claramunt et al. (2005) SEQ DNA Blood - - Sporadic -
GDAP1_00038 c.482G>A
  (Reported 8 times)
Substitution Exon 3 alpha4alpha5 loop - p.(Arg161His) Baxter et al. (2002) SEQ DNA Blood - - - -
GDAP1_00019 c.485-2A>G
  (Reported 4 times)
Substitution Intron 3 alpha4alpha5 loop r.485_579del p.? De Sandre-Giovannoli et al. (2003) SEQ DNA Blood - - - -
GDAP1_00013 c.487C>T
  (Reported 34 times)
Substitution Exon 4 alpha4alpha5 loop - p.(Gln163*) Claramunt et al. (2005) SEQ DNA Blood - - - -
GDAP1_00020 c.507T>C
  (Reported 10 times)
Substitution Exon 4 alpha4alpha5 loop - p.(=) Boerkoel et al. (2003) SEQ DNA Blood - - - -
GDAP1_00016 c.507T>G
  (Reported 11 times)
Substitution Exon 4 alpha4alpha5 loop - p.(=) Senderek et al. (2003) SEQ DNA Blood - c.507G>T An error is assumed in the nucleic mutation description. -
GDAP1_00051 c.533A>G Substitution Exon 4 alpha4alpha5 loop - p.(Asn178Ser) Zhang et al. (2004) SEQ DNA - - - - -
GDAP1_00023 c.558del
  (Reported 4 times)
Deletion Exon 4 alpha4alpha5 loop - p.(Ile186Metfs*20) Stojkovic et al. (2004) SEQ DNA Blood - - - -
GDAP1_00044 c.571C>T
  (Reported 4 times)
Substitution Exon 4 alpha4alpha5 loop - p.(Arg191*) Barankova et al. (2007) SEQ DNA Blood - - - -
GDAP1_00050 c.579+1G>A
  (Reported 2 times)
Substitution Intron 4 alpha4alpha5 loop - p.? Senderek et al. (2003) SEQ DNA Blood - - - -
GDAP1_00021 c.581C>G
  (Reported 38 times)
Substitution Exon 5 alpha4alpha5 loop - p.(Ser194*) Cuesta et al. (2002) Sevilla et al. (2003) Claramunt et al. (2005) Sevilla et al. (2008) SEQ DNA Blood - - - -
GDAP1_00006 c.652C>G
  (Reported 2 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Gln218Glu) Chung et al. (2008) SEQ DNA Blood - - - -
GDAP1_00039 c.656T>A Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Val219Asp) Moroni et al. (2009) SEQ DNA Blood - - - -
GDAP1_00054 c.656T>G Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Val219Gly) Chung et al. (2011) SEQ DNA - - - - -
GDAP1_00059 c.664G>A
  (Reported 5 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Glu222Lys) Kabzinska et al. (2014) SEQ DNA - - - - -
GDAP1_00025 c.668T>A
  (Reported 2 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Leu223*) De Sandre-Giovannoli et al. (2003) SEQ DNA Blood - - - -
GDAP1_00060 c.677_679del Deletion Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Arg226del) - SEQ DNA - - - - -
GDAP1_00007 c.678A>T
  (Reported 2 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Arg226Ser) Crimella et al. (2010) SEQ DNA Blood - - - -
GDAP1_00040 c.679A>G
  (Reported 2 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Asn227Asp) Kabzinska et al. (2010) SEQ DNA Blood - - The nucleotide change is inferred. It is not stated in the publication by Kabzinska et al. (2010). -
GDAP1_00041 c.692C>T
  (Reported 6 times)
Substitution Exon 5 GST-C (C-term Glutathione-S-transferase) - p.(Pro231Leu) Xin et al. (2008) SEQ DNA Blood - - - -
GDAP1_00046 c.694+24C>T
  (Reported 8 times)
Substitution Intron 5 - - p.(=) Sahin-Calapoglu et al. (2009) SEQ DNA Blood - c.IVS5+24C>T This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00014 c.715C>T
  (Reported 30 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Leu239Phe) Ammar et al. (2003) SEQ DNA Blood - - - -
GDAP1_00008 c.719G>A
  (Reported 3 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Cys240Tyr) Cassereau et al. (2009) SEQ DNA Blood - - - -
GDAP1_00052 c.767A>G
  (Reported 4 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(His256Arg) Zhang et al. (2004) SEQ DNA - - - - -
GDAP1_00026 c.786del
  (Reported 4 times)
Deletion Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Phe263Leufs*22) Nelis et al. (2002) SEQ DNA Blood - - - -
GDAP1_00002 c.805G>A Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Gly269Arg) Crimella et al. (2010) SEQ DNA Blood - - - -
GDAP1_00030 c.811G>A Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Gly271Arg) Ammar et al. (2003) SEQ DNA Blood - - - -
GDAP1_00042 c.817C>G Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Arg273Gly) Kabzinska et al. (2010) SEQ DNA Blood - - - -
GDAP1_00057 c.821C>T
  (Reported 2 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Pro274Leu) Zimon et al. (2011) SEQ DNA blood - - - -
GDAP1_00045 c.836A>G
  (Reported 14 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Tyr279Cys) Sahin-Calapoglu et al. (2009) SEQ DNA Blood - - - -
GDAP1_00043 c.844C>T
  (Reported 13 times)
Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Arg282Cys) Kabzinska et al. (2010) SEQ DNA Blood - - - -
GDAP1_00058 c.845G>A Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Arg282His) Lin et al. (2011) SEQ DNA - - - - -
GDAP1_00022 c.862dup
  (Reported 7 times)
Duplication Exon 6 Non-specific domain - p.(Thr288Asnfs*3) Cuesta et al. (2002)Sevilla et al. (2003)Claramunt et al. (2005)Sevilla et al. (2008) SEQ DNA Blood - c.863insA This mutation name has been modified according to the Nomenclature Working Group nomenclature. -
GDAP1_00033 c.891C>G
  (Reported 2 times)
Substitution Exon 6 HD (Hydrophobic domain) - p.(Asn297Lys) Moroni et al. (2009) SEQ DNA Blood - - - -
GDAP1_00024 c.929G>A
  (Reported 2 times)
Substitution Exon 6 Non-specific domain - p.(Arg310Gln) Azzedine et al. (2003) SEQ DNA Blood - - - -
GDAP1_00048 c.980G>A
  (Reported 4 times)
Substitution Exon 6 TMD (Transmembrane domain) - p.(Gly327Asp) Kabzinska et al. (2011) SEQ DNA Blood - - - -
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Legend: [ GDAP1 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. Genomic Reference Sequence.
GDAP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. DNA change (cDNA): Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Location: Variant location at DNA level. Exon: Exon numbering. Affected domain: Affected domain of the protein. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. Tissue: Tissue type the variant was detected in. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. DNA published: What the variant was reported as. Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic.