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Variant (rsID / SNP)

rs140463385

CDH23PSAP

rs140463385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23, PSAP. Location: chromosome 10, position 73,574,728. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CDH23Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:73574728
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
Allele change
Missense_D3253A

Associated conditions / phenotypes

Atypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|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.