NM_017653.6:c.1365+3_1365+10del

HGVS Expressions

  • NG_009239.2:g.207357_207364del
  • NM_017653.6:c.1365+3_1365+10del
  • NC_000018.10:g.49258370_49258377del

Associated Genes

Dymeclin
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.9.1Egypt2NAUncertain SignificanceDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018
223800.9.2Egypt2NAUncertain SignificanceDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018 Relative of 223800.9.1
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