NM_001011649.2:c.384_2106del

HGVS Expressions

  • NM_001011649.2:c.384_2106del
  • NP_001011649.1:p.Lys129PhefsTer22
  • NC_000009.12:g.120467862_120539166del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.1.1Saudi Arabia1Likely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019
604804.1.2Saudi Arabia1Likely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019 Relative of 604804.1.1
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