604219.1.G.1

Country

Saudi Arabia

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000394.4:c.160C>T	3

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Remarks

Father, mother and sibling of 604219.1.1. "All three heterozygotes had similar discernible but clinically insignificant bilateral punctuate lenticular opacities that were not present in the other asymptomatic family members".

References

Khan et al. 2007;
Khan et al. 2015