NM_024996.5:c.521A>G

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  2. NM_024996.5:c.521A>G

HGVS Expressions

  • NG_008441.1:g.7369A>G
  • NM_024996.5:c.521A>G
  • NP_079272.4:p.Asn174Ser

Associated Genes

Mitochondrial Elongation Factor G1
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Genomic Location

Chr3:158646896

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119470018

Clinvar

4160

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609060.1.1Lebanon2PathogenicCombined Oxidative Phosphorylation Deficiency 1Coenen et al, 2004
609060.1.2Lebanon2PathogenicCombined Oxidative Phosphorylation Deficiency 1Coenen et al, 2004 Brother of 609060.1.1
609060.1.3Lebanon1PathogenicCoenen et al, 2004 Mother of 609060.1.1 and 609060.1.2
609060.1.4Lebanon1PathogenicCoenen et al, 2004 Father of 609060.1.1 and 609060.1.2
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Contributors

  • Pratibha Nair: 28.01.2019

Edit History

  • Pratibha Nair: 28.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.