NM_006918.5:c.418G>A

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HGVS Expressions

  • NG_009446.1:g.18782G>A
  • NM_006918.5:c.418G>A
  • NP_008849.2:p.Gly140Ser
  • NC_000011.10:g.121306460G>A

Associated Genes

Sterol C5-Desaturase
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Clinvar Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

770048983

Clinvar

1460511

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261550.4United Arab Emirates1Melado et al. 2024 Patient has a homozygous variant in AMH ...
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Contributors

  • Asha Deepthi: 05.09.2024

Edit History

  • Asha Deepthi: 05.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.