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Variant (rsID / SNP)

rs74983220

RDX

rs74983220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDX. Location: chromosome 11, position 110,104,062. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RDXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:110104062
Cytoband
11q22.3
HGVS
NM_002906.4(RDX):c.1487C>T (p.Ala496Val)
Allele change
Missense_A496V

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 24

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.