Variant (rsID / SNP)
rs121917894
rs121917894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG2. Location: chromosome 11, position 36,615,033. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:36615033
- Cytoband
- 11p12
- HGVS
- NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
- Allele change
- Missense_R229Q
Associated conditions / phenotypes
Histiocytic medullary reticulosis|Severe combined immunodeficiency, B cell-negative|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis|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.