NM_173483.3:c.1114C>T

HGVS Expressions

  • NG_007987.1:g.40733C>T
  • NM_173483.3:c.1114C>T
  • NP_775754.2:p.Arg372Trp
  • NC_000019.10:g.15544257C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

560328

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604777.8Algeria2PathogenicIchthyosis, Congenital, Autosomal Recessive 5Lefevre et al. 2006
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