NM_004456.5:c.44G>T

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HGVS Expressions

  • NG_032043.1:g.42095G>T
  • NM_004456.5:c.44G>T
  • NP_004447.2:p.Trp15Leu
  • NC_000007.14:g.148847255C>A

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

760133156

Clinvar

989285

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277590.2United Arab Emirates1NAUncertain SignificanceWeaver SyndromeMahfouz et al. 2020 Patient's family has a history of multip...
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Contributors

  • Asha Deepthi: 18.07.2022

Edit History

  • Asha Deepthi: 18.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.