NM_016373.4:c.107+3A>G

HGVS Expressions

  • NG_011698.1:g.5235A>G
  • NM_016373.4:c.107+3A>G
  • NP_057457.1:p.?
  • NC_000016.10:g.78099888A>G
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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
616211.2United Arab Emirates2Likely PathogenicDevelopmental and Epileptic Encephalopathy 28Saleh et al. 2021
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