Variant (rsID / SNP)

rs121918571

rs121918571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,595,837. 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: 11:36595837
Cytoband: 11p12
HGVS: NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)
Allele change: Missense_C328Y

Associated conditions / phenotypes

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

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.