NM_002180.2:c.707T>G

HGVS Expressions

  • NG_007976.1:g.12749T>G
  • NM_002180.2:c.707T>G
  • NP_002171.2:p.Leu236Ter
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Genomic Location

chr11:68911599

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9117

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604320.2Lebanon2PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1Wilmshurst et al. 2001; Grohmann et al. 2003
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