615860.2

Country

United Arab Emirates

HPO Terms

Retinal dystrophy

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015072.5:c.(?_1282)_(2986_?)delNANA

Remarks

Patient(s) from 'family 34' in the publication. This mutation is a multi-exon deletion (exon 16-26).
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