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Variant (rsID / SNP)

rs79572315

WHRN

rs79572315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,185,766. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WHRNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:117185766
Cytoband
9q32
HGVS
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu)
Allele change
Missense_P485L

Associated conditions / phenotypes

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.