613826.G.2 - CAGS

613826.G.2

Country

United Arab Emirates

HPO Terms

Visual impairment

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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020366.3:c.2608_2609insA	6		Leber Congenital Amaurosis 6

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Remarks

3 members of a family

References

Patel et al, 2018

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.