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Variant (rsID / SNP)

rs147835286

PCDH15

rs147835286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,626,587. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PCDH15Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:55626587
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile)
Allele change
Missense_V1178I

Associated conditions / phenotypes

Usher syndrome type 1

Public references

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