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Variant (rsID / SNP)

rs111033260

PCDH15

rs111033260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 56,077,174. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCDH15Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:56077174
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
Allele change
Nonsense_R245X

Associated conditions / phenotypes

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