Variant (rsID / SNP)

rs113363047

rs113363047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,581,883. Clinical significance in the table: Benign.

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Reference-table entries

PCDH15Benign

Clinical significance (as recorded): Benign
Variant type: Microsatellite
Chromosome / position: 10:55581883
Cytoband: 10q21.1
HGVS: NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)

Associated conditions / phenotypes

Usher syndrome type 1|Usher syndrome type 1F|USHER SYNDROME, TYPE ID/F, DIGENIC

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.