NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGG

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  2. NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGG

HGVS Expressions

  • NG_009809.2:g.416927_416944delTCCTCCTGGTCCTCAAGG
  • NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGG
  • NP_001390.1:p.Pro222_Gly227del

Associated Genes

Ectodysplasin A
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Genomic Location

chrX:70027993:70028010

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
305100.1Egypt1Likely PathogenicEctodermal Dysplasia 1, Hypohidrotic, X-LinkedGaczkowska et al. 2016 de novo mutation
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Contributors

  • Pratibha Nair: 07.03.2019

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 07.03.2019
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© CAGS 2024. All rights reserved.