NM_133459.4:c.223T>A

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  2. NM_133459.4:c.223T>A

HGVS Expressions

  • NG_016990.1:g.222185T>A
  • NM_133459.4:c.223T>A
  • NP_597716.1:p.Cys75Ser
  • NC_000018.10:g.59480228A>T

Associated Genes

Collagen and Calcium-Binding EGF Domain-Containing Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908250

Clinvar

445

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235510.3Oman2PathogenicHennekam Lymphangiectasia-Lymphedema SyndromeAlders et al. 2013
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Contributors

  • Pratibha Nair: 06.07.2022

Edit History

  • Pratibha Nair: 06.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.