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Variant (rsID / SNP)

rs369021714

USH1C

rs369021714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,527,386. 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
11:17527386
Cytoband
11p15.1
HGVS
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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