Variant (rsID / SNP)

rs193922461

rs193922461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,596,420. 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: 11:36596420
Cytoband: 11p12
HGVS: NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
Allele change: Missense_W522C

Associated conditions / phenotypes

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

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.