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Variant (rsID / SNP)

rs112120466

USH2A

rs112120466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,848,696. 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
1:215848696
Cytoband
1q41
HGVS
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
Allele change
Missense_I4186T

Associated conditions / phenotypes

Retinal dystrophy|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.