Variant (rsID / SNP)
rs4151025
rs4151025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,595,157. Clinical significance in the table: Benign.
Reference-table entries
RAG1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:36595157
- Cytoband
- 11p12
- HGVS
- NM_000448.3(RAG1):c.303G>A (p.Ala101=)
- Allele change
- Synonymous_A101A
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|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.