NM_003384.3:c.761G>T

HGVS Expressions

  • NG_016293.1:g.63835G>T
  • NM_003384.3:c.761G>T
  • NP_003375.1:p.Trp254Leu
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Genomic Location

chr14:96856181

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

617789

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(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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