Variant (rsID / SNP)
rs193922462
rs193922462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,457. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RAG1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:36597457
- Cytoband
- 11p12
- HGVS
- NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)
- Allele change
- Missense_A868V
Associated conditions / phenotypes
Severe combined immunodeficiency disease|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.