Adenosine to Guanosine Transition Abnormality

MedGen UID:: 312871
•Concept ID:: C1706717
•: Cell or Molecular Dysfunction

Synonyms:

Adenosine to Guanosine Mutation; Adenosine to Guanosine Transition

Definition

A point mutation involving the substitution of Guanosine (a purine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAdenosine to Guanosine Transition Abnormality

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Mutation Abnormality
      - Point mutation
        Transition Mutation
        Adenosine to Guanosine Transition Abnormality

Recent clinical studies

Prognosis

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Hirschhorn R, Chakravarti V, Puck J, Douglas SD
Am J Hum Genet 1991 Oct;49(4):878-85. PMID: 1680289 Free PMC Article

See all (1)

Clinical prediction guides

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

Hirschhorn R, Chakravarti V, Puck J, Douglas SD
Am J Hum Genet 1991 Oct;49(4):878-85. PMID: 1680289 Free PMC Article

See all (1)

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Adenosine to Guanosine Transition Abnormality

Definition

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

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