NM_133459.4:c.305G>C

HGVS Expressions

  • NG_016990.1:g.232845G>C
  • NM_133459.4:c.305G>C
  • NP_597716.1:p.Cys102Ser
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Genomic Location

chr18:59469568

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

446

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235510.2Oman2PathogenicHennekam Lymphangiectasia-Lymphedema SyndromeAl-Gazali et al. 2003; Alders et al. 2009
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