604393.G.1 - CAGS

604393.G.1

Country

Saudi Arabia

HPO Terms

Retinal dystrophy

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Sex

Unknown

Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014336.5:c.178dup	4+		Leber Congenital Amaurosis 4

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Remarks

Family with unknown number of affected members

References

Patel et al. 2016

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.