Variant (rsID / SNP)

rs202095395

rs202095395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,547,890. 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: 11:17547890
Cytoband: 11p15.1
HGVS: NM_153676.4(USH1C):c.674+4G>A
Allele change: Silent

Associated conditions / phenotypes

Usher syndrome type 1C

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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