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Variant (rsID / SNP)

rs140682926

RAG2

rs140682926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,614,521. 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
11:36614521
Cytoband
11p12
HGVS
NM_000536.4(RAG2):c.1198G>C (p.Asp400His)
Allele change
Missense_D400H

Associated conditions / phenotypes

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

Public references

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