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Variant (rsID / SNP)

rs104894285

RAG1

rs104894285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,596,535. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAG1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:36596535
Cytoband
11p12
HGVS
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)
Allele change
Missense_R561C

Associated conditions / phenotypes

Severe combined immunodeficiency, B cell-negative|Histiocytic medullary reticulosis|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|Combined immunodeficiency with skin granulomas

Public references

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