Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene point mutation location intron text 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 Datatype text max length

UUID: e7782637-5789-528f-ad9b-3e804d6713e9

Text 255

# Definition

UUID: ce133310-56a1-544e-87aa-f7a1a0f1bf23

Text about point mutation at the intron

# Designation

UUID: d4337b3e-435b-5499-b3cf-1d179701300a

Gene point mutation location intron text

# Identifier Origin Version

UUID: fc2b64f7-dc24-559c-8b2c-730e90285bdf

C17894 NINDS 3

UUID: 0d60e30d-6f4d-575d-a322-094aedfc4f5b

GenePointMutLocIntronTxt BRICS Variable Name N/A

UUID: 9f25b2bb-1e28-5269-8076-c429841e13de

NYMPQAz03AQ NLM CDEs 12-02-2025-download