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Variant (rsID / SNP)

rs4151031

RAG1

rs4151031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,596,200. 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
11:36596200
Cytoband
11p12
HGVS
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)
Allele change
Missense_R449K

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.