Variant (rsID / SNP)

rs546979744

rs546979744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,614,083. Clinical significance in the table: Likely benign.

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Reference-table entries

RAG2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:36614083
Cytoband: 11p12
HGVS: NM_000536.4(RAG2):c.*52T>A
Allele change: Silent

Associated conditions / phenotypes

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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