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NM_020408.6:c.203G>T
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NM_020408.6:c.203G>T
HGVS Expressions
NG_051651.1:g.49329G>T; NC_000006.12:g.5216622C>A
NM_020408.6:c.203G>T
NP_065141.3:p.Arg68Leu
Associated Genes
LYR Motif-Containing Protein 4
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587777218
Clinvar
102450
Epidemiology in the Arab World
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All Countries
Lebanon
Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615595.1.1
Lebanon; Syria
2
Pathogenic
Combined Oxidative Phosphorylation Deficiency 19
Lim et al. 2013
Proband from a Lebanese-Syrian family
615595.1.2
Lebanon; Syria
2
Pathogenic
Combined Oxidative Phosphorylation Deficiency 19
Lim et al. 2013
Double first cousin of 615595.1.1
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Contributors
Sayeeda Hana: 06.01.2021
Edit History
Sayeeda Hana: 06.01.2021
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