NM_020547.3:c.762C>G

HGVS Expressions

  • NG_015981.1:g.6975C>G
  • NM_020547.3:c.762C>G
  • NP_065434.1:p.His254Gln
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Genomic Location

chr12:53425829

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

734341

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261550.3.1Jordan2PathogenicPersistent Mullerian Duct Syndrome, Types I and IIAbduljabbar et al. 2012
261550.3.2Jordan2PathogenicAbduljabbar et al. 2012 Sister of 261550.3.1
261550.3.3Jordan1PathogenicAbduljabbar et al. 2012 Sister of 261550.3.1
261550.3.4Jordan1PathogenicAbduljabbar et al. 2012 Sister of 261550.3.1
261550.3.5Jordan1PathogenicAbduljabbar et al. 2012 Father of 261550.3.1
261550.3.6Jordan1PathogenicAbduljabbar et al. 2012 Mother of 261550.3.1
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