NM_031889.2:c.588+1del

HGVS Expressions

  • NG_013024.1:g.14101del
  • NM_031889.2:c.588+1del
  • NP_114095.2:p.?
  • NC_000004.12:g.70637844del

Associated Genes

Enamelin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1192504

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
104500.1Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 Benign variants seen in family, but not ...
104500.1.1Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003
104500.1.2Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 First cousin of 104500.1.3, 104500.1.4, ...
104500.1.3Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003
104500.1.4Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 Father of 104500.1.1
104500.1.5Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003
104500.1.6Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003
104500.1.7Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 Father of 104500.1.2
104500.1.8Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 Father of 104500.1.2
104500.1.9Lebanon1PathogenicAmelogenesis Imperfecta Type IBHart et al., 2003 Father of 104500.1.5 & 104500.1.6
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