NM_014382.4:c.13C>T

HGVS Expressions

  • NG_007379.2:g.84898C>T
  • NM_014382.4:c.13C>T
  • NP_055197.2:p.Arg5Cys
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Genomic Location

chr3:130930422

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
169600.1Lebanon1PathogenicBenign Chronic PemphigusBtadini et al. 2015
169600.4Lebanon1PathogenicBenign Chronic PemphigusBtadini et al. 2015
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