Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

GDAP1

ganglioside induced differentiation associated protein 1

Chromosome
8
Cytoband
8q21.11
Variants (rsID)
32

GDAP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q21.11). Its official name is “ganglioside induced differentiation associated protein 1”. The reference table lists 32 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

14 reference-table entries with clinical significance.

  • rs104894076Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4A
  • rs139808557Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4A
  • rs879254192Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 4A
  • rs104894075Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • rs104894078Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease type 4A
  • rs104894080Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Polyneuropathy|Peripheral axonal neuropathy|Elevated circulating alkaline phosphatase concentration|Sensory neuropathy|Elevated circulating creatine kinase concentration|Charcot-Marie-Tooth disease|GDAP1-Related Disorders
  • rs1060500978PathogenicDeletionCharcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate A
  • rs121908114Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease
  • rs28937906Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease type 4A
  • rs397515442Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease
  • rs864622501Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K
  • rs140811185Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease recessive intermediate A
  • rs144199299Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 4A
  • rs371138642Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.