NM_032040.4:c.803_807delinsT

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HGVS Expressions

  • NG_031956.1:g.6655_6659delinsT
  • NM_032040.4:c.803_807delinsT
  • NP_114429.2:p.Lys268IlefsTer40
  • NC_000019.10:g.46412004_46412008delinsA

Associated Genes

Coiled-Coil Domain-Containing Protein 8
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

dbSNP

1973237748

Clinvar

1028424

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614205.1.1Saudi Arabia2Likely PathogenicThree M Syndrome 3Al-Dosari et al. 2012
614205.1.2Saudi Arabia2Likely PathogenicThree M Syndrome 3Al-Dosari et al. 2012 Sibling of 614205.1.1
614205.1.3Saudi Arabia2Likely PathogenicThree M Syndrome 3Al-Dosari et al. 2012 Sibling of 614205.1.1
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Contributors

  • Pratibha Nair: 19.09.2022

Edit History

  • Pratibha Nair: 19.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.