NM_000660.7:c.652C>T

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  2. NM_000660.7:c.652C>T

HGVS Expressions

  • NG_013364.1:g.16697C>T
  • NM_000660.7:c.652C>T
  • NP_000651.3:p.Arg218Cys

Associated Genes

Transforming Growth Factor, Beta-1
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Genomic Location

chr19:41342230

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894721

Clinvar

12531

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
131300.1Lebanon1PathogenicCamamurati-Engelmann DiseaseJalkh et al. 2019 Parents from the same village
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Contributors

  • Pratibha Nair: 03.11.2020

Edit History

  • Pratibha Nair: 03.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.