NM_017721.5:c.2693del

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  2. NM_017721.5:c.2693del

HGVS Expressions

  • NG_013089.1:g.28501del
  • NM_017721.5:c.2693del
  • NP_060191.3:p.Gly898ValfsTer45
  • NC_000019.10:g.13929643del

Associated Genes

Coiled-Coil and C2 Domains-Containing Protein 1A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1423002835

Clinvar

984700

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608443.1.1Egypt2PathogenicIntellectual Developmental Disorder, Autosomal Recessive 3Reuter et al. 2017
608443.1.2Egypt2PathogenicIntellectual Developmental Disorder, Autosomal Recessive 3Reuter et al. 2017 Relative of 608443.1.1
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Contributors

  • Sayeeda Hana: 24.09.2024

Edit History

  • Sayeeda Hana: 24.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.