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Variant (rsID / SNP)

rs145017164

PCDH15

rs145017164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,955,543. 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
10:55955543
Cytoband
10q21.1
HGVS
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
Allele change
Missense_G402A

Associated conditions / phenotypes

Usher syndrome type 1D|Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|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.