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Variant (rsID / SNP)

rs111033516

PCDH15

rs111033516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,780,078. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCDH15Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:55780078
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
Allele change
Synonymous_S875S

Associated conditions / phenotypes

Usher syndrome type 1|Usher syndrome type 1F

Public references

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