NM_024809.5:c.1506-2A>G

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HGVS Expressions

  • NG_030442.1:g.33590A>G
  • NM_024809.5:c.1506-2A>G
  • NC_000012.12:g.123699702A>G

Associated Genes

Tectonic Family, Member 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

374349989

Clinvar

31076

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613885.1Saudi Arabia2PathogenicMeckel Syndrome 8Shaheen et al. 2011; Shaheen et al. 2017 Subject had two sisters and a cousin wit...
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Contributors

  • Sayeeda Hana: 13.09.2022

Edit History

  • Sayeeda Hana: 13.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.