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NM_012160.4:c.1304G>T
Home
NM_012160.4:c.1304G>T
HGVS Expressions
NG_033903.1:g.53726G>T
NM_012160.4:c.1304G>T
NP_036292.2:p.Arg435Leu
NC_000006.12:g.98899281C>A
Associated Genes
F-Box and Leucine-Rich Repeat Protein 4
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Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
754142863
Clinvar
437476
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
615471.1.1
United Arab Emirates
2
Likely Pathogenic
Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)
Al-Shamsi et al. 2016
Patient with mitochondrial DNA Depletion...
615471.1.2
United Arab Emirates
2
Likely Pathogenic
Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)
Al-Shamsi et al. 2016
Sibling of 615471.1.1
615471.4
United Arab Emirates
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 13 (Encephalomyopathic Type)
Huemer et al. 2015
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Contributors
Pratibha Nair: 17.06.2020
Edit History
Pratibha Nair: 23.08.2022
Sayeeda Hana: 18.05.2022
Pratibha Nair: 18.06.2020
Pratibha Nair: 17.06.2020
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