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Variant (rsID / SNP)

rs193922573

RAG2

rs193922573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,614,410. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:36614410
Cytoband
11p12
HGVS
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
Allele change
Missense_E437K

Associated conditions / phenotypes

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency|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.