Variant (rsID / SNP)

rs192832486

rs192832486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX5. Location: chromosome 1, position 151,316,681. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RFX5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:151316681
Cytoband: 1q21.3
HGVS: NM_001025603.2(RFX5):c.547T>C (p.Ser183Pro)
Allele change: Missense_S183P

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.