NM_001079818.3:c.140C>T

HGVS Expressions

  • NG_008853.1:g.5343C>T
  • NM_001079818.3:c.140C>T
  • NP_001073286.1:p.Ser47Leu
  • NC_000002.12:g.172427928C>T

Associated Genes

Integrin, Alpha-6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1526406

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619817.1.1United Arab Emirates2PathogenicEpidermolysis Bullosa, Junctional 6, with Pyloric AtresiaAllegra et al. 2003
619817.1.2United Arab Emirates1Allegra et al. 2003 Father of 226730.1.1
619817.1.3United Arab Emirates1Allegra et al. 2003 Mother of 226730.1.1
619817.1.4United Arab Emirates1Allegra et al. 2003 Uncle of 226730.1.1
619817.1.5United Arab Emirates1Allegra et al. 2003 Paternal grandfather of 226730.1.1
619817.1.6United Arab Emirates1Allegra et al. 2003 Maternal grandfather of 226730.1.1, brot...
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