LOVD - Variant listings for GDAP1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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5 entries
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DNA change (cDNA)   Descending

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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_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_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_00002 c.805G>A Substitution Exon 6 GST-C (C-term Glutathione-S-transferase) - p.(Gly269Arg) Crimella et al. (2010) 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.