NM_152416.4:c.296A>G

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  2. NM_152416.4:c.296A>G

HGVS Expressions

  • NM_152416.4:c.296A>G
  • NP_689629.2:p.Gln99Arg

Associated Genes

NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6
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Genomic Location

chr8:95032093

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137853184

Clinvar

547

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618239.1.1Lebanon2PathogenicMitochondrial Complex I Deficiency, Nuclear Type 17Pagliarini et al. 2008
618239.1.2Lebanon2PathogenicMitochondrial Complex I Deficiency, Nuclear Type 17Pagliarini et al. 2008 Sibling of 618239.1.1
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Contributors

  • Pratibha Nair: 27.12.2020

Edit History

  • Pratibha Nair: 27.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.