NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003024805.2
Allele description [Variation Report for NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly)]
NM_000448.3(RAG1):c.3098A>G (p.Asp1033Gly)
Condition(s)
- Name:
- Combined immunodeficiency with skin granulomas
- Synonyms:
- Combined cellular and humoral immune defects with granulomas
- Identifiers:
- MONDO: MONDO:0009306; MedGen: C2673536; OMIM: 233650
- Name:
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- Synonyms:
- SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; SCID, AR, T-cell negative, B-cell negative, NK cell-positive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011086; MedGen: C1832322; Orphanet: 331206; OMIM: 601457
Assertion and evidence details
Last Updated: Mar 5, 2024