NM_001429.4:c.1092C>A

HGVS Expressions

  • NG_009817.1:g.40063C>A
  • NM_001429.4:c.1092C>A
  • NP_001420.2:p.Cys364Ter
  • NC_000022.11:g.41127672C>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191170

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613684.1Saudi Arabia1NAPathogenicRubinstein-Taybi Syndrome 2Maddirevula et al. 2018 De novo mutation; patient's parents are ...
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