NM_147127.5:c.3870_3893dup

HGVS Expressions

  • NG_015821.1:g.151644_151667dup
  • NM_147127.5:c.3870_3893dup
  • NP_667338.3:p.Lys1293_Lys1300dup
  • NC_000004.12:g.5562882_5562905dup
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

183329

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.7Saudi Arabia2NALikely PathogenicEVC2 Associated Meckel Gruber SyndromeAlazami et al. 2015; Maddirevula et al. 2018
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