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Variant (rsID / SNP)

rs56059137

WHRN

rs56059137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WHRN. Location: chromosome 9, position 117,188,522. 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
9:117188522
Cytoband
9q32
HGVS
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
Allele change
Missense_R379W

Associated conditions / phenotypes

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

Public references

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