NM_000038.6:c.423-4_423-2del

HGVS Expressions

  • NG_008481.4:g.88105_88107del
  • NM_000038.6:c.423-4_423-2del
  • NC_000005.10:g.112775625_112775627del

Associated Genes

APC Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

411534

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611731.1.1Saudi Arabia2NALikely PathogenicMaddirevula et al. 2018
611731.1.2Saudi Arabia2NALikely PathogenicMaddirevula et al. 2018 Relative of 611731.1.1
611731.1.3Saudi Arabia2NALikely PathogenicMaddirevula et al. 2018 Relative of 611731.1.1
611731.1.4Saudi Arabia2NALikely PathogenicMaddirevula et al. 2018 Relative of 611731.1.1
611731.1.5Saudi Arabia2NALikely PathogenicMaddirevula et al. 2018 Relative of 611731.1.1
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