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Variant (rsID / SNP)

rs397517963

USH2A

rs397517963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,498,790. 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
1:216498790
Cytoband
1q41
HGVS
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
Allele change
Missense_R334W

Associated conditions / phenotypes

Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy

Public references

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