NM_001197104.2:c.3790C>T

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  2. NM_001197104.2:c.3790C>T

HGVS Expressions

  • NG_027813.1:g.50381C>T
  • NM_001197104.2:c.3790C>T
  • NP_001184033.1:p.Arg1264Ter
  • NC_000011.10:g.118481870C>T

Associated Genes

Lysine-Specific Methyltransferase 2A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555039343

Clinvar

522088

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605130.3Saudi Arabia1PathogenicWiedemann-Steiner SyndromeMonies et al. 2017
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Contributors

  • Asha Deepthi: 19.10.2024

Edit History

  • Asha Deepthi: 19.10.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.