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Variant (rsID / SNP)

rs193922463

RAG1

rs193922463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,758. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:36597758
Cytoband
11p12
HGVS
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
Allele change
Missense_N968K

Associated conditions / phenotypes

Histiocytic medullary reticulosis|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.