NM_017653.6:c.1282C>T

HGVS Expressions

  • NG_009239.2:g.207271C>T
  • NM_017653.6:c.1282C>T
  • NP_060123.3:p.Arg428Ter
  • NC_000018.10:g.49258463G>A

Associated Genes

Dymeclin
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191092

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.11Saudi Arabia2NAPathogenicDyggve-Melchior-Clausen DiseaseMaddirevula et al. 2018 Patient's parents are from the same regi...
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