NM_001197104.2:c.3094G>T

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HGVS Expressions

  • NG_027813.1:g.42764G>T
  • NM_001197104.2:c.3094G>T
  • NP_001184033.1:p.Ala1032Ser
  • NC_000011.10:g.118474253G>T

Associated Genes

Lysine-Specific Methyltransferase 2A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1949994505

Clinvar

1027821

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605130.5Saudi Arabia1Likely PathogenicWiedemann-Steiner SyndromeMonies et al. 2017 Patient's parents are from the same trib...
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Contributors

  • Asha Deepthi: 19.10.2024

Edit History

  • Asha Deepthi: 30.10.2024
  • Asha Deepthi: 19.10.2024
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.