NM_198129.3:c.1789-7_1789-5delTTC

HGVS Expressions

  • NG_007853.2:g.129799_129801
  • NM_198129.3:c.1789-7_1789-5delTTC

Associated Genes

Laminin, Alpha-3
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Genomic Location

chr18:23814396-23814398

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226700.3Lebanon2PathogenicEpidermolysis Bullosa, Junctional 1B, SevereNair et al. 2018
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