NM_032340.4:c.214-3C>G

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HGVS Expressions

  • NG_034147.1:g.16236C>G
  • NM_032340.4:c.214-3C>G

Associated Genes

Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2
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Genomic Location

chr6:33700516

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777410

Clinvar

133295

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615824.1.1Lebanon2PathogenicMitochondrial Complex III Deficiency, Nuclear Type 7Tucker et al, 2013 The patient's father had a similar facia...
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Contributors

  • Sayeeda Hana: 25.02.2020

Edit History

  • Sayeeda Hana: 25.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.