NM_000346.3:c.509C>T

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HGVS Expressions

  • NG_012490.1:g.6777C>T
  • NM_000346.3:c.509C>T
  • NP_000337.1:p.Pro170Leu
  • NC_000017.11:g.72122796C>T

Associated Genes

SRY-Box 9
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1131691554

Clinvar

429733

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114290.1.1Lebanon1Likely PathogenicCampomelic DysplasiaCorbani et al. 2011
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Contributors

  • Pratibha Nair: 07.07.2021

Edit History

  • Pratibha Nair: 07.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.