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Variant (rsID / SNP)

rs142131750

CDH23

rs142131750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,544,689. 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
10:73544689
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
Allele change
Synonymous_D1848D

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.