NM_006314.3:c.439C>T

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HGVS Expressions

  • NG_047117.1:g.9414C>T
  • NM_006314.3:c.439C>T
  • NP_006305.2:p.Arg147Ter
  • NC_000001.11:g.26181903C>T

Associated Genes

Connector Enhancer of Kinase Suppressor of Ras 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

780235575

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603272.2Saudi Arabia1Uncertain SignificanceCNKSR1 Associated Intellectual DisabilityMonies et al. 2017 Patient has heterozygous variants in CNK...
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Contributors

  • Asha Deepthi: 24.10.2024

Edit History

  • Asha Deepthi: 24.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.