NM_025132.4:c.1434C>G

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HGVS Expressions

  • NG_031813.1:g.40657C>G
  • NM_025132.4:c.1434C>G
  • NP_079408.3:p.Ile478Met
  • NC_000004.12:g.39218060C>G

Associated Genes

WD Repeat-Containing Protein 19
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886039814

Clinvar

266105

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614379.3Saudi Arabia2NALikely PathogenicCranioectodermal Dysplasia 4Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 23.02.2022

Edit History

  • Asha Deepthi: 23.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.