NM_001148.6:c.1135C>T

HGVS Expressions

  • NG_009006.2:g.442797C>T
  • NM_001148.6:c.1135C>T
  • NP_001139.3:p.Arg379Cys
  • NC_000004.12:g.113255879C>T

Associated Genes

Ankyrin 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

190542

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600919.1.1United Arab Emirates1PathogenicCardiac Arrhythmia, Ankyrin-B-RelatedAl-Shamsi et al. 2016 Two siblings died of cardiac arrest.
600919.1.2United Arab Emirates1PathogenicCardiac Arrhythmia, Ankyrin-B-RelatedAl-Shamsi et al. 2016 Sibling of 600919.1.1
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