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Variant (rsID / SNP)

rs121918573

RAG2

rs121918573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,614,286. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RAG2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:36614286
Cytoband
11p12
HGVS
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)
Allele change
Missense_C478Y

Associated conditions / phenotypes

Severe combined immunodeficiency, B cell-negative|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Recombinase activating gene 2 deficiency|Inborn errors of immunity

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.