NM_133378.4:c.9160G>C

HGVS Expressions

  • NM_133378.4:c.9160G>C
  • NP_596869.4:p.Glu3054Gln
  • NC_000002.12:g.178768676C>G

Associated Genes

Titin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604145.1.1United Arab Emirates1Likely PathogenicCardiomyopathy, Dilated, 1GAl-Shamsi et al. 2016
604145.1.2United Arab Emirates1Likely PathogenicAl-Shamsi et al. 2016 Mother of 604145.1.1
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