Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Allele number one point mutation subclass information 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: 7db3a816-c0fc-560a-8f72-c21e6d2bab14

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 5b2626c9-152c-5f80-afb9-45f25eb380cd

Insertion Deletion Insertion Deletion Insertion Deletion

UUID: 2ef18da2-b145-5fb7-86ae-beb6350f32c3

Nonsense Type Nonsense Type Nonsense Type

# Definition

UUID: 046d60ae-4e66-596b-a171-9fd05073b5ea

Type of point mutation subclass information, first allele number one

# Designation

UUID: 9fcb5cf1-232e-57c9-978f-635a739d0241

Allele number one point mutation subclass information

# Identifier Origin Version

UUID: 548d04d7-67c8-5036-a0fa-b31307c57613

AlleleNumOnePoMutLocSubInfTyp BRICS Variable Name N/A

UUID: 89eeb751-3015-5102-949b-ea6ae40f1466

KyNAFvbF4y6 NLM CDEs 12-02-2025-download

UUID: ebf97d3f-c08e-5967-8fb8-4344f3ccfb69

C17890 NINDS 3