NM_133448.3:c.1489A>G

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  2. NM_133448.3:c.1489A>G

HGVS Expressions

  • NG_052808.1:g.824011A>G
  • NM_133448.3:c.1489A>G
  • NP_597705.2:p.Lys497Glu
  • NC_000012.12:g.129084657T>C

Associated Genes

Transmembrane Protein 132D
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201719802

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611257.1.1Jordan2Likely PathogenicReuter et al. 2017
611257.1.2Jordan2Likely PathogenicReuter et al. 2017 Relative of 611257.1.1
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Contributors

  • Sayeeda Hana: 30.10.2024

Edit History

  • Sayeeda Hana: 30.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.