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Variant (rsID / SNP)

rs201816080

PCDH15

rs201816080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,721,637. 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
10:55721637
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
Allele change
Missense_R962C

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.