NM_015690.5:c.2131T>C

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  2. NM_015690.5:c.2131T>C

HGVS Expressions

  • NG_029739.1:g.26302T>C
  • NM_015690.5:c.2131T>C
  • NP_056505.2:p.Cys711Arg

Associated Genes

Serine/Threonine Protein Kinase 36
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Genomic Location

chr2:218693327

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

768560846

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611816.1Lebanon1Likely PathogenicMégarbané et al, 2016 Authors consider Temple-Baraitser Syndro...
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Contributors

  • Pratibha Nair: 23.06.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 23.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.