NM_005249.5:c.256del

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HGVS Expressions

  • NG_009367.1:g.5455del
  • NM_005249.5:c.256del
  • NP_005240.3:p.Gln86ArgfsTer106
  • NC_000014.9:g.28767535del

Associated Genes

Forkhead Box G1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205001

Clinvar

189612

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617360.1United Arab Emirates1PathogenicRett Syndrome, Congenital VariantTrinh et al. 2019 Patient had dual diagnosis of CHDFIDD an...
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Contributors

  • Sayeeda Hana: 03.10.2022

Edit History

  • Pratibha Nair: 09.11.2022
  • Sayeeda Hana: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.