NM_021102.4:c.443G>A

HGVS Expressions

  • NG_013372.1:g.30713G>A
  • NM_021102.4:c.443G>A
  • NP_066925.1:p.Arg148His
  • NC_000019.10:g.38290170G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270420.1.1United Arab Emirates2Likely PathogenicDiarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital AnomaliesBou Chaaya et al. 2017 The patient had an older sister with pro...
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