NM_001378615.1:c.3084del

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HGVS Expressions

  • NG_013035.1:g.98559del
  • NM_001378615.1:c.3084del
  • NP_001365544.1:p.Lys1029fs
  • NC_000004.12:g.15563424del

Associated Genes

Coiled-Coil And C2 Domains-Containing Protein 2A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

386833749

Clinvar

56301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612284.1Saudi Arabia2NAPathogenicMeckel Syndrome, Type 6Maddirevula et al. 2018; Shaheen et al. 2017; Shaheen et al. 2015 Subject had an older stillbirth brother ...
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Contributors

  • Asha Deepthi: 27.10.2021

Edit History

  • Sayeeda Hana: 15.09.2022
  • Asha Deepthi: 27.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.