NM_015284.4:c.7341-2G>A

HGVS Expressions

  • NG_029091.1:g.56618A>G
  • NM_015284.4:c.7341-2G>A
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Genomic Location

chr1:43441502

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
615476.1Lebanon2Likely PathogenicEpileptic Encephalopathy, Early Infantile, 18Nair et al. 2018
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