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NM_018418.5:c.288T>A
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NM_018418.5:c.288T>A
HGVS Expressions
NG_021183.1:g.36117T>A
NM_018418.5:c.288T>A
NP_060888.2:p.Cys96Ter
NC_000014.9:g.88416760T>A
Associated Genes
Spermatogenesis-Associated Protein 7
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
767745816
Clinvar
191050
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
604232.3
United Arab Emirates
2
Likely Pathogenic
Leber Congenital Amaurosis 3
Alabdullatif et al. 2017
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Contributors
Pratibha Nair: 23.06.2022
Edit History
Pratibha Nair: 23.06.2022
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