NM_170707.4:c.1357C>T

HGVS Expressions

  • NG_008692.2:g.58841C>T
  • NM_170707.4:c.1357C>T
  • NP_733821.1:p.Arg453Trp

Associated Genes

Lamin A/C
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Genomic Location

chr1:156136413

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

14478

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
181350.1Lebanon1PathogenicEmery-Dreifuss Muscular Dystrophy 2, Autosomal DominantRefaat et al. 2019
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