NM_022455.5:c.2339C>T

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HGVS Expressions

  • NG_009821.1:g.82660C>T
  • NM_022455.5:c.2339C>T
  • NP_071900.2:p.Ser780Leu

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1
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Genomic Location

chr5:177210738

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

201327209

Clinvar

241432

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
117550.1Lebanon1Likely PathogenicSotos Syndrome 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 10.11.2020

Edit History

  • Pratibha Nair: 10.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.