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Variant (rsID / SNP)

rs146451547

USH1C

rs146451547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,526,211. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

USH1CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17526211
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 18A|Usher syndrome type 1C|Usher syndrome type 1

Public references

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