NM_183075.3:c.850T>C

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HGVS Expressions

  • NG_007961.1:g.18769T>C
  • NM_183075.3:c.850T>C
  • NP_898898.1:p.Phe284Leu
  • NC_000004.12:g.107945329T>C

Associated Genes

Cytochrome P450, Family 2, Subfamily U, Polypeptide 1
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

148477072

Clinvar

512742

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603272.2Saudi Arabia1Uncertain SignificanceMonies et al. 2017 Patient has heterozygous variants in CNK...
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Contributors

  • Asha Deepthi: 24.10.2024

Edit History

  • Asha Deepthi: 24.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.