NM_001013839.4:c.809-2A>G

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HGVS Expressions

  • NG_030672.1:g.17551A>G
  • NM_001013839.4:c.809-2A>G
  • NP_001013861.1:p.?
  • NC_000017.11:g.76091237T>C

Associated Genes

Exocyst Complex Component 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1310629937

Clinvar

983545

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619072.1.1United Arab Emirates2PathogenicNeurodevelopmental Disorder with Seizures and Brain AtrophyCoulter et al. 2020
619072.1.2United Arab Emirates2PathogenicNeurodevelopmental Disorder with Seizures and Brain AtrophyCoulter et al. 2020 Sister of 619072.1.1
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Contributors

  • Sayeeda Hana: 26.10.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Sayeeda Hana: 26.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.