Variant (rsID / SNP)

rs137853001

rs137853001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 56,424,016. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PCDH15Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:56424016
Cytoband: 10q21.1
HGVS: NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
Allele change: Nonsense_R3X

Associated conditions / phenotypes

Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|Rare genetic deafness

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.