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Variant (rsID / SNP)

rs200490320

USH1C

rs200490320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,542,554. 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
11:17542554
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.1086-13G>T
Allele change
Silent

Associated conditions / phenotypes

Usher syndrome type 1C

Public references

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