Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene point mutation location 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: 9ae13649-a48b-5099-971b-d58e173af5f8

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 11eac88f-2f6f-5ee2-a3f7-b698e7790804

Exon (point mutation) Exon (point mutation) Exon (point mutation)

UUID: 0e1b04e4-1eaf-5f6d-a1b8-cd089519127f

Intron Intron Intron

UUID: 21fef106-661d-5ade-8b48-6105116bb60b

Other Other Other

# Definition

UUID: 721bb9e7-935c-5e43-9a96-6035177b4dc1

Type of location of the point mutation

# Designation

UUID: c5a7289e-7c67-5273-8d50-b18a19c089f8

Gene point mutation location type

# Identifier Origin Version

UUID: b983ef20-4185-512b-8bf8-7e07ede5d0d5

cWPwae3p3C9 NLM CDEs 12-02-2025-download

UUID: 07f369da-25b0-5f78-b945-e57fdb319508

GenePointMutLocTyp BRICS Variable Name N/A

UUID: 1e44586f-64a0-5d6f-a379-280e83abd538

C12798 NINDS 3