NM_021976.5:c.1091C>T

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  2. NM_021976.5:c.1091C>T

HGVS Expressions

  • NG_023374.1:g.9717C>T
  • NM_021976.5:c.1091C>T
  • NP_068811.1:p.Pro364Leu
  • NC_000006.12:g.33195939G>A

Associated Genes

Retinoid X Receptor, Beta
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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
180246.1.1Syria2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
180246.1.2Syria2Likely PathogenicReuter et al. 2017 Relative of 180246.1.1
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Contributors

  • Sayeeda Hana: 25.09.2024

Edit History

  • Sayeeda Hana: 22.10.2024
  • Sayeeda Hana: 25.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.