NM_012259.3:c.486_564del

HGVS Expressions

  • NM_012259.3:c.486_564del
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Genomic Location

chr6:125759274-125759352

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614429.3Lebanon1PathogenicVentricular Septal Defect 1Fardoun et al. 2019
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