NM_012205.3:c.483dup

HGVS Expressions

  • NM_012205.3:c.483dup
  • NP_036337.2:p.Asp162Ter
  • NC_000002.12:g.42770144dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

403727

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617660.1.1Iraq2PathogenicVertebral, Cardiac, Renal, and Limb Defects Syndrome 1Shi et al. 2017
617660.1.2Iraq1PathogenicShi et al. 2017 Father of 617660.1.1
617660.1.3Iraq1PathogenicShi et al. 2017 Mother of 617660.1.1
617660.1.GIraq4PathogenicShi et al. 2017 4 siblings of 617660.1.1
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