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Variant (rsID / SNP)

rs200542052

CDH23

rs200542052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,472,562. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDH23Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:73472562
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
Allele change
Missense_I1121F

Associated conditions / phenotypes

Retinal dystrophy|Usher syndrome type 1

Public references

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