NM_004985.5:c.458A>T

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HGVS Expressions

  • NG_007524.2:g.46100A>T
  • NM_004985.5:c.458A>T
  • NP_004976.2:p.Asp153Val
  • NC_000012.12:g.25209904T>A

Associated Genes

KRAS Proto-Oncogene, GTPase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894360

Clinvar

12587

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609942.1Saudi Arabia1PathogenicNoonan Syndrome 3Monies et al. 2017
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Contributors

  • Asha Deepthi: 20.11.2024

Edit History

  • Asha Deepthi: 20.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.