NM_001197104.2:c.8842A>C

HGVS Expressions

  • NG_027813.1:g.73245A>C
  • NM_001197104.2:c.8842A>C
  • NP_001184033.1:p.Asn2948His
  • NC_000011.10:g.118504734A>C
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605130.6Saudi Arabia1Uncertain SignificanceWiedemann-Steiner SyndromeMonies et al. 2017
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