NM_000018.4:c.711_712del

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HGVS Expressions

  • NG_007975.1:g.7207_7208del
  • NM_000018.4:c.711_712del
  • NP_000009.1:p.Cys237TrpfsTer15
  • NC_000017.11:g.7222040_7222041del

Associated Genes

Acyl-CoA Dehydrogenase, Very Long-Chain
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

2071256607

Clinvar

932827

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
201475.1.1Lebanon2PathogenicAcyl-CoA Dehydrogenase, Very Long-Chain, Deficiency ofTouma et al, 2001 The patient had two sisters who died ear...
201475.1.2Lebanon1PathogenicTouma et al, 2001 Unaffected father of 201475.1.1
201475.1.3Lebanon1PathogenicTouma et al, 2001 Unaffected mother of 201475.1.1
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Contributors

  • Sayeeda Hana: 08.12.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Asha Deepthi: 26.09.2021
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 08.12.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.