NM_181453.4:c.3982C>T

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  2. NM_181453.4:c.3982C>T

HGVS Expressions

  • NM_181453.4:c.3982C>T
  • NP_852118.2:p.His1328Tyr
  • NC_000002.12:g.108487750C>T

Associated Genes

Grip and Coiled-Coil Domain-Containing Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1036170628

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612711.1.1United Arab Emirates2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
612711.1.2United Arab Emirates2Likely PathogenicReuter et al. 2017 Relative of 612711.1.1
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Contributors

  • Sayeeda Hana: 10.10.2024

Edit History

  • Sayeeda Hana: 30.10.2024
  • Sayeeda Hana: 10.10.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.