NM_025132.4:c.2585T>C

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HGVS Expressions

  • NG_031813.1:g.67089T>C
  • NM_025132.4:c.2585T>C
  • NP_079408.3:p.Leu862Pro
  • NC_000004.12:g.39244492T>C

Associated Genes

WD Repeat-Containing Protein 19
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1414268971

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614378.2Saudi 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.