NM_001034852.3:c.664+1G>A

HGVS Expressions

  • NG_028217.1:g.120085G>A
  • NM_001034852.3:c664+1G>A
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Genomic Location

chr14:69994481

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

30727

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
206920.2Lebanon2PathogenicMicrophthalmia with Limb AnomaliesOkada et al. 2011; Hamanoue et al. 2009
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