Variant (rsID / SNP)

rs121918569

rs121918569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,187. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RAG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:36597187
Cytoband: 11p12
HGVS: NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)
Allele change: Missense_R778Q

Associated conditions / phenotypes

Combined immunodeficiency with skin granulomas

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.