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Variant (rsID / SNP)

rs193922464

RAG1

rs193922464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,595,176. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RAG1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:36595176
Cytoband
11p12
HGVS
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
Allele change
Nonsense_R108X

Associated conditions / phenotypes

Severe combined immunodeficiency disease|RAG1-Related Disorders|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency due to partial RAG1 deficiency

Public references

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