NM_001160036.1:c.1477G>A

HGVS Expressions

  • NG_047133.1:g.25399G>A
  • NM_001160036.1:c.1477G>A
  • NP_001153508.1:p.Glu493Lys
  • NC_000008.11:g.23007656G>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
618004.1United Arab Emirates1Likely PathogenicDevelopmental and Epileptic Encephalopathy 64Saleh et al. 2021 de novo mutation
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