NM_000445.5:c.5258insG

HGVS Expressions

  • NG_012492.1:g.56994insG
  • NM_000445.5:c.5258insG
  • NP_958782.1:p.Glu1863Gly

Associated Genes

Plectin
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Genomic Location

chr8:143924752

CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226670.1.1Lebanon2PathogenicEpidermolysis Bullosa Simplex with Muscular DystrophySchara et al. 2004
226670.1.2Lebanon1PathogenicSchara et al. 2004 Mother of 226670.1.1
226670.1.3Lebanon1PathogenicSchara et al. 2004 Father of 226670.1.1
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