NM_000218.2:c.773A>C

HGVS Expressions

  • NG_008935.1:g.132112A>C
  • NM_000218.2:c.773A>C
  • NP_000209.2:p.His258Pro
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Genomic Location

chr11:2572102

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

67105

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192500.3.01Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013
192500.3.02Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Mother of 192500.3.01
192500.3.03Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Daughter of 192500.3.01
192500.3.04Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Brother of 192500.3.01
192500.3.05Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Brother of 192500.3.01
192500.3.06Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Brother of 192500.3.01
192500.3.07Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
192500.3.08Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
192500.3.09Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
192500.3.10Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
192500.3.11Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
192500.3.12Saudi Arabia1PathogenicLong QT Syndrome 1Shinwari et al. 2013 Nephew of 192500.3.01
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