Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146655362

WHRN

rs146655362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,266,891. 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
9:117266891
Cytoband
9q32
HGVS
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
Allele change
Missense_A64D

Associated conditions / phenotypes

Usher syndrome type 2D|Autosomal recessive nonsyndromic hearing loss 31|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.