NM_005199.5:c.715C>T

HGVS Expressions

  • NG_012954.2:g.8301C>T
  • NM_005199.5:c.715C>T
  • NP_005190.4:p.Arg239Cys
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Genomic Location

chr2:232542992

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

18337

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
265000.5.1Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Proband
265000.5.2Lebanon2PathogenicMultiple Pterygium Syndrome, Escobar VariantHoffmann et al. 2006 Sister of 265000.5.1
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