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Variant (rsID / SNP)

rs45500891

USH2A

rs45500891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,538,391. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

USH2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:216538391
Cytoband
1q41
HGVS
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
Allele change
Missense_V230M

Associated conditions / phenotypes

Retinitis pigmentosa|Usher syndrome type 2A

Public references

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