NM_058238.3:c.739C>T

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HGVS Expressions

  • NM_058238.3:c.739C>T
  • NP_478679.1:p.Arg247Trp
  • NC_000022.11:g.45923167G>A

Associated Genes

Wingless-Type MMTV Integration Site Family, Member 7B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1475762618

Clinvar

437886

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601186.4.1Saudi Arabia2PathogenicMicrophthalmia, Syndromic 9AlAbdi et al. 2024
601186.4.2Saudi Arabia2PathogenicMicrophthalmia, Syndromic 9AlAbdi et al. 2024 Sister of 601186.4.1
601186.4.3Saudi Arabia1AlAbdi et al. 2024 Father of 601186.4.1
601186.4.4Saudi Arabia1AlAbdi et al. 2024 Mother of 601186.4.1
601186.5.1Saudi Arabia2PathogenicMicrophthalmia, Syndromic 9AlAbdi et al. 2024
601186.5.2Saudi Arabia1AlAbdi et al. 2024 Father of 601186.5.1
601186.5.3Saudi Arabia1AlAbdi et al. 2024 Mother of 601186.5.1
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Contributors

  • Sayeeda Hana: 05.05.2025

Edit History

  • Sayeeda Hana: 05.05.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.