NM_005159.4:c.251T>C

HGVS Expressions

  • NG_007553.1:g.7279T>C
  • NM_005159.4:c.251T>C
  • NP_005150.1:p.Met84Thr
  • NC_000015.10:g.34793448A>G
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612794.1.01Lebanon1PathogenicAtrial Septal Defect 5Megarbane et al. 1999; Augiere et al, 2015
612794.1.02Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Son of 612794.1.01
612794.1.03Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Brother of 612794.1.01
612794.1.04Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Niece of 612794.1.01
612794.1.05Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Nephew of 612794.1.01
612794.1.06Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Nephew of 612794.1.01
612794.1.07Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Great niece of 612794.1.01
612794.1.08Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Great niece of 612794.1.01
612794.1.09Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Great nephew of 612794.1.01
612794.1.10Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Brother of 612794.1.01
612794.1.11Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Nephew of 612794.1.01
612794.1.12Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Great niece of 612794.1.01
612794.1.13Lebanon1PathogenicAtrial Septal Defect 5Augiere et al, 2015 Great nephew of 612794.1.01
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