NM_139057.3:c.652del

HGVS Expressions

  • NG_016287.2:g.65613del
  • NM_139057.3:c.652del
  • NP_620688.2:p.Asp218ThrfsTer41
  • NC_000015.10:g.100281368del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

492940

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613195.1.1Saudi Arabia2NALikely PathogenicWeill-Marchesani Syndrome 4Maddirevula et al. 2018
613195.1.2Saudi Arabia2NALikely PathogenicWeill-Marchesani Syndrome 4Maddirevula et al. 2018 Brother of 613195.1.1
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