NM_001286577.1:c.1429del

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  2. NM_001286577.1:c.1429del

HGVS Expressions

  • NG_041791.1:g.57701del
  • NM_001286577.1:c.1429del
  • NP_001273506.1:p.Lys476_Ile477insTer

Associated Genes

C2 Calcium-Dependent Domain-Containing Protein 3
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Genomic Location

chr11:74118319

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1406007301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615948.2.1Palestine1PathogenicOrofaciodigital Syndrome XIVCortés et al, 2016 20 weeks old fetus
615948.2.2Palestine1PathogenicOrofaciodigital Syndrome XIVCortés et al, 2016 Brother of 615948.2.1. 15 weeks old fetu...
615948.2.4Palestine1PathogenicCortés et al, 2016 Mother of 615948.2.1
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Contributors

  • Sayeeda Hana: 13.05.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 13.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.