NM_000094.3:c.188_189delinsC

HGVS Expressions

  • NG_007065.1:g.5807_58088delinsC
  • NM_000094.3:c.188_189delinsC
  • NP_000085.1:p.Gly63Alafs*41
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Genomic Location

chr3:48594445-48594446

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226600.1.1Syria2PathogenicEpidermolysis Bullosa Dystrophica, Autosomal RecessiveFarooq et al, 2013
226600.1.2Syria1PathogenicFarooq et al, 2013 Father of 226600.1.1
226600.1.3Syria1PathogenicFarooq et al, 2013 Mother of 226600.1.1
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