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Variant (rsID / SNP)

rs144688588

PSAP

rs144688588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,572,643. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PSAPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:73572643
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
Allele change
Missense_I3210T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.