NM_006172.4:c.450+478_450+485dup

HGVS Expressions

  • NG_012926.1:g.6157_6164dup
  • NM_006172.4:c.450+478_450+485dup
  • NP_006163.1:p.?
  • NC_000001.11:g.11846628_11846635dup
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CTGA Clinical Significance

Association, Benign

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
145500.G.6.1United Arab Emirates640.27BenignFrossard et al. 1997 120 hypertensives; 60 females
145500.G.6.2United Arab Emirates680.3BenignFrossard et al. 1997 112 hypertensives; 58 females
192600.G.1.1United Arab Emirates480.25AssociationCardiomyopathy, Familial Hypertrophic, 1Obineche et al. 2002 96 patients with LVH
192600.G.1.2United Arab Emirates390.35AssociationObineche et al. 2002 55 control subjects
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