NM_080473.4:c.424T>C

HGVS Expressions

  • NG_046963.1:g.5873T>C
  • NM_080473.4:c.424T>C
  • NP_536721.1:p.Tyr142His

Associated Genes

GATA-Binding Protein 5
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Genomic Location

chr20:62475098

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

420167

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
217095.1.1Lebanon2Likely PathogenicConotruncal Heart MalformationsKassab et al, 2015
217095.1.2Lebanon1Likely PathogenicKassab et al, 2015 Mother of 217095.1.1
217095.1.3Lebanon1Likely PathogenicKassab et al, 2015 Father of 217095.1.1
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