NM_001453.3:c.379C>T

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  2. NM_001453.3:c.379C>T

HGVS Expressions

  • NG_009368.1:g.5379C>T
  • NM_001453.3:c.379C>T
  • NP_001444.2:p.Arg127Cys

Associated Genes

Forkhead Box C1
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Genomic Location

chr6:1610824

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
601631.1.1Lebanon1Likely PathogenicAnterior Segment Dysgenesis 3Khalil et al, 2017
601631.1.2Lebanon1Likely PathogenicAnterior Segment Dysgenesis 3Khalil et al, 2017 Sibling of 601631.1.1
601631.1.3Lebanon1Likely PathogenicAnterior Segment Dysgenesis 3Khalil et al, 2017 Sibling of 601631.1.1
601631.1.5Lebanon1Likely PathogenicKhalil et al, 2017 Mother of 601631.1.1
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Contributors

  • Pratibha Nair: 30.04.2020

Edit History

  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 17.11.2021
  • Pratibha Nair: 30.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.