NM_020547.3:c.994C>T

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HGVS Expressions

  • NG_015981.1:g.10625C>T
  • NM_020547.3:c.994C>T
  • NP_065434.1:p.Arg332Ter

Associated Genes

Anti-Mullerian Hormone Type II Receptor
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Genomic Location

chr12:53429479

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

781745214

Clinvar

689555

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261550.1Saudi Arabia2PathogenicPersistent Mullerian Duct Syndrome, Types I and IIAl-Faris et al. 2016
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Contributors

  • Sayeeda Hana: 02.09.2020

Edit History

  • Sayeeda Hana: 02.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.