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Variant (rsID / SNP)

rs146445078

USH2A

rs146445078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,017,691. 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
1:216017691
Cytoband
1q41
HGVS
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
Allele change
Missense_V3068A

Associated conditions / phenotypes

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.