NM_000906.4:c.1768G>A

HGVS Expressions

  • NM_000906.4:c.1768G>A
  • NP_000897.3:p.Val590Met
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Genomic Location

chr1:153686655

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
192600.1.1Lebanon2Likely PathogenicCardiomyopathy, Familial Hypertrophic, 1Refaat et al. 2019
192600.1.2Lebanon1Likely PathogenicCardiomyopathy, Familial Hypertrophic, 1Refaat et al. 2019 Sibling of 192600.1.1
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