NM_000536.4(RAG2):c.648C>A (p.Ile216=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001470827.6
Allele description [Variation Report for NM_000536.4(RAG2):c.648C>A (p.Ile216=)]
NM_000536.4(RAG2):c.648C>A (p.Ile216=)
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
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Homo sapiens OTU deubiquitinase 7A (OTUD7A), transcript variant 2, mRNA
Homo sapiens OTU deubiquitinase 7A (OTUD7A), transcript variant 2, mRNAgi|1677531200|ref|NM_001329907.2|Nucleotide
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Last Updated: Feb 28, 2024