NM_003384.3:c.656G>T

HGVS Expressions

  • NG_016293.1:g.62957G>T
  • NM_003384.3:c.656G>T
  • NP_003375.1:p.Arg219Ile
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Genomic Location

chr14:96855303

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

619020

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607088.1.1Lebanon1PathogenicSpinal Muscular Atrophy, Distal, Autosomal RecessiveEl-Bazzal et al. 2019
607088.1.2Lebanon1PathogenicSpinal Muscular Atrophy, Distal, Autosomal RecessiveEl-Bazzal et al. 2019 Sibling of 607088.1.1. Showed more sever...
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