NM_001110556.1:c.2411T>A

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HGVS Expressions

  • NG_011506.1:g.17067T>A
  • NM_001110556.1:c.2411T>A
  • NP_001104026.1:p.Val804Asp
  • NC_000023.11:g.154362572A>T

Associated Genes

Filamin A
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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
311300.1Lebanon1Likely PathogenicOtopalatodigital Syndrome, Type IMoutton et al. 2016 de novo mutation
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Contributors

    Edit History

    • Rahila Mir: 10.02.2022
    • Pratibha Nair: 28.06.2021
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.