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Variant (rsID / SNP)

rs199894395

CDH23

rs199894395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,462,429. 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
10:73462429
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
Allele change
Missense_P904L

Associated conditions / phenotypes

Usher syndrome type 1D|CDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|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.