NM_001032221.3:c.1359+1G>A

HGVS Expressions

  • NG_016623.1:g.69548G>A
  • NM_001032221.3:c.1359+1G>A
  • NP_001027392.1:p.?
  • NC_000009.12:g.127676754G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

207435

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612164.1United Arab Emirates1PathogenicDevelopmental and Epileptic Encephalopathy 4Saleh et al. 2021 de novo mutation
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