RS111033367 USH2A
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What This Variant Does
"aka c.4338_4339delCT (p.Cys1447Glnfs) This mutation in the USH2A gene is the major cause of Usher sy...
Associated Conditions
Usher syndrome type 2A
USH2A-related disorder
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Usher syndrome type 2A
USH2A-related disorder
Usher syndrome
Retinal dystrophy
Retinitis pigmentosa 39
Other Variants in USH2A