Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs45527543

WHRN

rs45527543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,267,049. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

WHRNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:117267049
Cytoband
9q32
HGVS
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
Allele change
Missense_S11R

Associated conditions / phenotypes

Retinitis pigmentosa-deafness syndrome|Autosomal recessive nonsyndromic hearing loss 31|Usher syndrome type 2D

Public references

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