NM_021978.4:c.2269+1G>A

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HGVS Expressions

  • NG_012132.1:g.53899G>A
  • NM_021978.4:c.2269+1G>A
  • NP_068813.1:p.?
  • NC_000011.10:g.130208685G>A

Associated Genes

Suppression of Tumorigenicity 14
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777262

Clinvar

126419

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602400.G.1United Arab Emirates10PathogenicIchthyosis, Congenital, Autosomal Recessive 11Lestringant et al. 1998; Alef et al. 2009 Emirati family of Bedouin ancestry. 5 si...
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Contributors

  • Pratibha Nair: 12.08.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 12.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.