NM_014049.5:c.1595G>A

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  2. NM_014049.5:c.1595G>A

HGVS Expressions

  • NG_017064.1:g.35563G>A
  • NM_014049.5:c.1595G>A
  • NP_054768.2:p.Arg532Gln
  • NC_000003.12:g.128910052G>A

Associated Genes

Acyl-CoA Dehydrogenase Family, Member 9
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

770127110

Clinvar

242459

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611103.G.1Qatar20.009Likely PathogenicDevadoss Gandhi et al. 2024 2 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 14.11.2024

Edit History

  • Sayeeda Hana: 14.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.