NM_000479.5:c.259G>A

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  2. NM_000479.5:c.259G>A

HGVS Expressions

  • NG_012190.1:g.5478G>A
  • NM_000479.5:c.259G>A
  • NP_000470.3:p.Val87Met
  • NC_000019.10:g.2249591G>A

Associated Genes

Anti-Mullerian Hormone
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

906101382

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261550.4United Arab Emirates2Uncertain SignificancePersistent Mullerian Duct Syndrome, Types I and IIMelado 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.