Variant (rsID / SNP)

rs137853003

rs137853003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 56,128,954. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PCDH15Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:56128954
Cytoband: 10q21.1
HGVS: NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
Allele change: Missense_R134G

Associated conditions / phenotypes

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.