NM_005562.3:c.136C>T

HGVS Expressions

  • NG_007079.2:g.26674C>T
  • NM_005562.3:c.136C>T
  • NP_005553.2:p.Gln46Ter
  • NC_000001.11:g.183207937C>T

Associated Genes

Laminin, Gamma-2
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Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1074699

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.G.2Saudi ArabiaEpidermolysis Bullosa, Junctional 1A, IntermediateNakano et al. 2002 Unknown number of patients from 'family ...
226650.G.3Saudi ArabiaEpidermolysis Bullosa, Junctional 1A, IntermediateNakano et al. 2002 Unknown number of patients from 'family ...
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