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Variant (rsID / SNP)

rs200328570

CDH23

rs200328570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,270,925. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDH23Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
10:73270925
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
Allele change
Missense_A129T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|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.