Variant (rsID / SNP)

rs2233851

rs2233851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX5. Location: chromosome 1, position 151,316,324. Clinical significance in the table: Benign.

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Reference-table entries

RFX5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:151316324
Cytoband: 1q21.3
HGVS: NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln)
Allele change: Missense_R197Q

Associated conditions / phenotypes

MHC class II deficiency

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.