Variant (rsID / SNP)

rs375134176

rs375134176 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,582,203. 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: 10:55582203
Cytoband: 10q21.1
HGVS: NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
Allele change: Silent

Associated conditions / phenotypes

Usher syndrome type 1|Usher syndrome type 1F

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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