NM_003718.5:c.1499C>T

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HGVS Expressions

  • NG_052965.1:g.42527C>T
  • NM_003718.5:c.1499C>T
  • NP_003709.3:p.Thr500Met
  • NC_000007.14:g.39987886C>T

Associated Genes

Cyclin-Dependent Kinase 13
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

922943045

Clinvar

1133176

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617360.1United Arab Emirates1Likely PathogenicCongenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental DisorderTrinh et al. 2019 Patient had dual diagnosis of CHDFIDD an...
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Contributors

  • Sayeeda Hana: 03.10.2022

Edit History

  • Sayeeda Hana: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.