Variant (rsID / SNP)

rs148718874

rs148718874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH15. Location: chromosome 10, position 55,582,674. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCDH15Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:55582674
Cytoband: 10q21.1
HGVS: NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
Allele change: Silent

Associated conditions / phenotypes

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

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.