NM_005249.5:c.1397G>A

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  2. NM_005249.5:c.1397G>A

HGVS Expressions

  • NG_009367.1:g.6596G>A
  • NM_005249.5:c.1397G>A
  • NP_005240.3:p.Gly466Glu
  • NC_000014.9:g.28768676G>A

Associated Genes

Forkhead Box G1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1566446008

Clinvar

561012

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613454.1United Arab Emirates1PathogenicRett Syndrome, Congenital VariantAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 07.07.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 07.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.