Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene point mutation nonsense codon type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Cerebral Palsy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Duchenne/Becker Muscular Dystrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Facioscapulohumeral muscular dystrophy (FSHD)
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Myasthenia Gravis
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
      • ▼ Spinal Muscular Atrophy
        • ▼ Classification
          • Supplemental
        • ▼ Domain
          • ▼ Assessments and Examinations
            • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Domain
      • ▼ Assessments and Examinations
        • Laboratory Tests and Biospecimens/Biomarkers
    • ▼ Population
      • Adult
      • Pediatric

# Datatype

UUID: a09dfc34-fe30-5ac0-8a99-12a1c95c4ab7

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 12efcc16-78ee-5a00-8393-a5a03c0b57e6

Not applicable Not applicable Not applicable

UUID: d979e7e3-ed4e-5f44-9cde-e07ac9b88734

UAA UAA UAA

UUID: 415917ee-1c4d-5095-aa68-40539f6d28cc

UAG UAG UAG

UUID: 0432da58-921e-54c2-aeca-4330f30f44d9

UGA UGA UGA

# Definition

UUID: 463418a4-3ec1-5c68-96e5-c39f8070f4ce

Type of nonsense point mutation

# Designation

UUID: 483f4740-94df-5ce4-adc3-99eccacbce56

Gene point mutation nonsense codon type

# Identifier Origin Version

UUID: 329c2b87-8d2c-542b-82af-f60801796ed8

gPP7ZCJE2js NLM CDEs 12-02-2025-download

UUID: 7d3e1ae3-9c26-5e2b-87fb-0db41ecc1141

GenePointMutNonsenseCodonTyp BRICS Variable Name N/A

UUID: a5cc0399-dc6c-5c96-a331-c2a754120936

C12801 NINDS 3