NM_000022.4(ADA):c.556G>A (p.Glu186Lys) AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000672186.4
Allele description [Variation Report for NM_000022.4(ADA):c.556G>A (p.Glu186Lys)]
NM_000022.4(ADA):c.556G>A (p.Glu186Lys)
Condition(s)
- Name:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Synonyms:
- ADA-SCID; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; ADA deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007064; MedGen: C1863236; Orphanet: 277; OMIM: 102700
Assertion and evidence details
Last Updated: Aug 4, 2024