NM_020812.4:c.2520dup

HGVS Expressions

  • NG_031953.1:g.31861dup
  • NM_020812.4:c.2520dup
  • NP_065863.2:p.Arg841SerfsTer6
  • NC_000019.10:g.11235634dup
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

55814

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614219.3Arab2NAPathogenicAdams-Oliver Syndrome 2Maddirevula et al. 2018; Shaheen et al. 2013a
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