NM_020779.4:c.206G>A

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HGVS Expressions

  • NG_021212.1:g.12653G>A
  • NM_020779.4:c.206G>A
  • NP_065830.2:p.Gly69Asp
  • NC_000002.12:g.19982471C>T

Associated Genes

WD Repeat-Containing Protein 35
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

765513105

Clinvar

431796

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613610.1.1Saudi Arabia2NALikely PathogenicCranioectodermal Dysplasia 2Maddirevula et al. 2018; Maddirevula et al. 2020
613610.1.2Saudi Arabia2NALikely PathogenicCranioectodermal Dysplasia 2Maddirevula et al. 2018; Maddirevula et al. 2020 Sister of 613610.1.1
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Contributors

  • Asha Deepthi: 24.02.2022

Edit History

  • Asha Deepthi: 24.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.