NM_014780.5:c.263del

HGVS Expressions

  • NG_016205.1:g.6420del
  • NM_014780.5:c.263del
  • NP_055595.2:p.Val88AlafsTer27
  • NC_000006.12:g.43052526del

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

191331

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.6Saudi Arabia2NAPathogenicThree M Syndrome 1Maddirevula et al. 2018
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