NM_003722.4:c.1748A>T

HGVS Expressions

  • NG_007550.1:g.267781A>T
  • NM_003722.4:c.1748A>T
  • NP_003713.3:p.Asp583Val
  • NC_000003.12:g.189894207A>T

Associated Genes

Tumor Protein p63
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

665978

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604292.1Lebanon1PathogenicEctrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3Kawai et al, 2018
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