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Variant (rsID / SNP)

rs150762709

RAG2

rs150762709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,615,697. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAG2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:36615697
Cytoband
11p12
HGVS
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)
Allele change
Missense_V8I

Associated conditions / phenotypes

Histiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Public references

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