NM_005249.5:c.689G>T

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HGVS Expressions

  • NG_009367.1:g.5888G>T
  • NM_005249.5:c.689G>T
  • NP_005240.3:p.Arg230Leu
  • NC_000014.9:g.28767968G>T

Associated Genes

Forkhead Box G1
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205007

Clinvar

288531

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613454.2Saudi Arabia1PathogenicRett Syndrome, Congenital VariantShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 30.01.2022

Edit History

  • Sayeeda Hana: 30.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.