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Variant (rsID / SNP)

rs146333270

USH1C

rs146333270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,532,052. 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
11:17532052
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
Allele change
Silent

Associated conditions / phenotypes

Hearing impairment

Public references

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