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Variant (rsID / SNP)

rs377118941

CDH23PSAP

rs377118941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23, PSAP. Location: chromosome 10, position 73,574,996. 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
10:73574996
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
Allele change
Synonymous_D3342D

Associated conditions / phenotypes

Nonsyndromic Hearing Loss, Recessive|Atypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Retinitis pigmentosa-deafness syndrome|Metachromatic leukodystrophy|CDH23-Related Disorders|Galactosylceramide beta-galactosidase deficiency|Usher syndrome type 1D|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.