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Variant (rsID / SNP)

rs4151033

RAG1

rs4151033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,492. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAG1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:36597492
Cytoband
11p12
HGVS
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)
Allele change
Missense_E880K

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.