NM_017653.5:c.194-1G>A

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  2. NM_017653.5:c.194-1G>A

HGVS Expressions

  • NM_017653.5:c.194-1G>A
  • NC_000018.10:g.49379759C>T

Associated Genes

Dymeclin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
223800.5.1Lebanon2Likely PathogenicDyggve-Melchior-Clausen DiseaseNeumann et al, 2006
223800.5.2Lebanon2Likely PathogenicDyggve-Melchior-Clausen DiseaseNeumann et al, 2006 Sister of 223800.5.1
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Contributors

  • Sayeeda Hana: 04.02.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 04.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.