Variant (rsID / SNP)

rs28933392

rs28933392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAG1. Location: chromosome 11, position 36,597,018. 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: 11:36597018
Cytoband: 11p12
HGVS: NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)
Allele change: Missense_E722K

Associated conditions / phenotypes

Severe combined immunodeficiency, B cell-negative

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.