Variant (rsID / SNP)

rs2135720

rs2135720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,755,491. Clinical significance in the table: Benign.

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Reference-table entries

PCDH15Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:55755491
Cytoband: 10q21.1
HGVS: NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)
Allele change: Missense_R929Q

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.