NM_015884.3:c.1424T>C

HGVS Expressions

  • NG_012797.1:g.47982T>C
  • NM_015884.3:c.1424T>C
  • NP_056968.1:p.Phe475Ser
  • NC_000023.11:g.21882519T>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

11405

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
308205.1.1Lebanon1PathogenicIFAP Syndrome with or without Bresheck SyndromeNemer et al, 2017; Bornholdt et al. 2013 Sibling of 308205.1.2
308205.1.2Lebanon1PathogenicIFAP Syndrome with or without Bresheck SyndromeNemer et al, 2017; Bornholdt et al. 2013 Sibling of 308205.1.1
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