NM_133459.4:c.979G>C

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HGVS Expressions

  • NG_016990.1:g.264294G>C
  • NM_133459.4:c.979G>C
  • NP_597716.1:p.Gly327Arg

Associated Genes

Collagen and Calcium-Binding EGF Domain-Containing Protein
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Genomic Location

chr18:59438119

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908252

Clinvar

447

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235510.1Iraq2PathogenicHennekam Lymphangiectasia-Lymphedema SyndromeAlders et al. 2009
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Contributors

  • Sayeeda Hana: 19.08.2020

Edit History

  • Sayeeda Hana: 19.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.