NM_001184880.2:c.577_578del

HGVS Expressions

  • NG_021319.1:g.7253_7254del
  • NM_001184880.2:c.577_578del
  • NP_001171809.1:p.Glu193LysfsTer32
  • NC_000023.11:g.100408020_100408021del

Associated Genes

Protocadherin 19
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300088.1Saudi Arabia1Likely PathogenicDevelopmental and Epileptic Encephalopathy 9Monies et al. 2017
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