NM_001304717.5:c.101C>T

HGVS Expressions

  • NG_007466.2:g.5613C>T
  • NM_001304717.5:c.101C>T
  • NP_001291646.4:p.Ala34Val
  • NC_000010.11:g.87864050C>T
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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
158350.4Saudi Arabia1Likely PathogenicCowden Syndrome 1Monies et al. 2019
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