Variant (rsID / SNP)

rs104894287

rs104894287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,375. 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: 11:36597375
Cytoband: 11p12
HGVS: NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)
Allele change: Missense_R841W

Associated conditions / phenotypes

Combined immunodeficiency due to partial RAG1 deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|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.