Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gene mutation type NINDS Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NINDS
    • ▼ Disease
      • ▼ Headache
        • ▼ 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: 31e9c3af-6894-5eaf-9c55-c1ce5f4799b3

Value List

# Permissible value Value meaning name Value meaning definition

UUID: 8da27cc0-10c3-52be-829f-69feae544fde

Amino acid change, specify Amino acid change, specify Amino acid change, specify

UUID: 572df3ff-cf35-5e76-a0bf-05c669663093

Nucleotide change, specify Nucleotide change, specify Nucleotide change, specify

# Definition

UUID: 4acb1f82-62ad-58d4-a291-5319a74a0d51

The type of genetic variant or mutation shown

# Designation

UUID: 68d0ca83-accf-55be-a501-26fdb78b3e00

Gene mutation type

# Identifier Origin Version

UUID: c30aa8f4-6a27-578a-baca-baf44194f13b

DOcrt48zCoP NLM CDEs 12-02-2025-download

UUID: 72d16b7c-8ade-55a5-85a8-a0ef6d905752

C15539 NINDS 3

UUID: a5ed646c-01ff-51fd-8625-fa69edec23c1

GeneMutTyp BRICS Variable Name N/A