NM_000206.3(IL2RG):c.261G>T (p.Leu87=) AND X-linked severe combined immunodeficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002136537.6
Allele description [Variation Report for NM_000206.3(IL2RG):c.261G>T (p.Leu87=)]
NM_000206.3(IL2RG):c.261G>T (p.Leu87=)
Condition(s)
- Name:
- X-linked severe combined immunodeficiency (SCIDX1)
- Synonyms:
- IMMUNODEFICIENCY 4; X-Linked Combined Immunodeficiency Diseases; Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010315; MedGen: C1279481; Orphanet: 276; OMIM: 300400
-
PREDICTED: Benincasa hispida calcium homeostasis endoplasmic reticulum protein (...
PREDICTED: Benincasa hispida calcium homeostasis endoplasmic reticulum protein (LOC120085818), mRNAgi|1955879889|ref|XM_039042027.1|Nucleotide
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Last Updated: Sep 29, 2024