NM_020812.4:c.5254T>C

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HGVS Expressions

  • NG_031953.1:g.64802T>C
  • NM_020812.4:c.5254T>C
  • NP_065863.2:p.Phe1752Leu
  • NC_000019.10:g.11202691A>G

Associated Genes

Dedicator Of Cytokinesis 6
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614219.1Saudi Arabia2NAUncertain SignificanceAdams-Oliver Syndrome 2Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 11.11.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.