NM_001034852.2:c.910del

HGVS Expressions

  • NG_028217.1:g.137141del
  • NM_001034852.2:c.910del
  • NP_001030024.1:p.Asp304MetfsTer60
  • NC_000014.9:g.70011537del
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
206920.3Lebanon2PathogenicMicrophthalmia with Limb AnomaliesRainger et al. 2011
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