NM_001244008.2:c.4391G>C

HGVS Expressions

  • NG_029724.1:g.101722G>C
  • NM_001244008.2:c.4391G>C
  • NP_001230937.1:p.Gly1464Ala
  • NC_000002.12:g.240723486C>G

Associated Genes

Kinesin Family Member 1A
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614255.1Saudi Arabia1Uncertain SignificanceNESCAV SyndromeMonies et al. 2017
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