NM_000022.4(ADA):c.467G>A (p.Arg156His) AND SCID due to ADA deficiency, delayed onset
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 1996
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000002061.10
Allele description [Variation Report for NM_000022.4(ADA):c.467G>A (p.Arg156His)]
NM_000022.4(ADA):c.467G>A (p.Arg156His)
Condition(s)
- Name:
- SCID due to ADA deficiency, delayed onset
- Synonyms:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, delayed onset; SCID due to ADA deficiency, late-onset
- Identifiers:
- MedGen: CN042911
Assertion and evidence details
Last Updated: Mar 23, 2024