NM_004456.5:c.2233G>A

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HGVS Expressions

  • NG_032043.1:g.81681G>A
  • NM_004456.5:c.2233G>A
  • NP_004447.2:p.Glu745Lys
  • NC_000007.14:g.148807669C>T

Associated Genes

Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397515548

Clinvar

65675

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277590.1Saudi Arabia1NAPathogenicWeaver SyndromeMaddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 18.11.2021

Edit History

  • Asha Deepthi: 18.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.