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NM_001376.5:c.10973G>A
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NM_001376.5:c.10973G>A
HGVS Expressions
NG_008777.1:g.78997G>A
NM_001376.5:c.10973G>A
NP_001367.2:p.Gly3658Glu
NC_000014.9:g.102038524G>A
Associated Genes
Dynein, Cytoplasmic 1, Heavy Chain 1
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
1595629181
Clinvar
813289
Epidemiology in the Arab World
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All Countries
Syria
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
614563.1
United Arab Emirates
1
Pathogenic
Mental Retardation, Autosomal Dominant 13
Al-Shamsi et al. 2016
614563.2
Syria
1
Likely Pathogenic
Mental Retardation, Autosomal Dominant 13
Hertecant et al. 2016
de novo mutation
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Contributors
Pratibha Nair: 16.07.2020
Edit History
Pratibha Nair: 23.08.2022
Pratibha Nair: 13.07.2022
Pratibha Nair: 16.07.2020
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