NM_001197104.2:c.3248G>A

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  2. NM_001197104.2:c.3248G>A

HGVS Expressions

  • NG_027813.1:g.45407G>A
  • NM_001197104.2:c.3248G>A
  • NP_001184033.1:p.Arg1083Gln
  • NC_000011.10:g.118476896G>A

Associated Genes

Lysine-Specific Methyltransferase 2A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2134282557

Clinvar

2498535

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605130.4Saudi Arabia1Likely PathogenicWiedemann-Steiner SyndromeMonies et al. 2017
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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.