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Variant (rsID / SNP)

rs202033121

PCDH15

rs202033121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,698,632. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PCDH15Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:55698632
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
Allele change
Nonsense_R1106X

Associated conditions / phenotypes

Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1D|Usher syndrome type 1F|Rare genetic deafness

Public references

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