NM_201525.4:c.64+5G>A

HGVS Expressions

  • NG_011643.1:g.35359G>A
  • NM_201525.4:c.64+5G>A
  • NP_958933.1:p.?
  • NC_000016.10:g.57650356G>A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

984712

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606854.G.1Syria6Likely PathogenicPolymicrogyria, Bilateral FrontoparietalReuter et al. 2017 3 members of a family
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