NM_006420.3:c.2776C>T

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HGVS Expressions

  • NG_011490.2:g.72909C>T
  • NM_006420.3:c.2776C>T
  • NP_006411.2:p.Arg926Ter
  • NC_000020.11:g.48989646C>T

Associated Genes

ADP-Ribosylation Factor Guanine Nucleotide Exchange Factor 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

773569365

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608097.1.1Egypt2PathogenicPeriventricular Heterotopia With Microcephaly, Autosomal RecessiveMakrythanasis et al. 2014
608097.1.2Egypt2PathogenicPeriventricular Heterotopia With Microcephaly, Autosomal RecessiveMakrythanasis et al. 2014 Second-cousin of 608097.1.1
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Contributors

  • Sayeeda Hana: 22.02.2022

Edit History

  • Sayeeda Hana: 22.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.