Variant (rsID / SNP)
rs141524540
rs141524540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,596,157. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:36596157
- Cytoband
- 11p12
- HGVS
- NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
- Allele change
- Missense_M435V
Associated conditions / phenotypes
Combined immunodeficiency with skin granulomas|Combined immunodeficiency due to partial RAG1 deficiency|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|Severe combined immunodeficiency disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.