NM_014875.3:c.4071G>A

HGVS Expressions

  • NG_042074.1:g.60666G>A
  • NM_014875.3:c.4071G>A
  • NP_055690.1:p.Gln1357=
  • NC_000001.11:g.200565069C>T

Associated Genes

Kinesin Family Member 14
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

503567

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617914.1.1Saudi Arabia2NAPathogenicMicrocephaly 20, Primary, Autosomal RecessiveMoawia et al. 2017 Patient from 'family 3' in the publicati...
617914.1.2Saudi Arabia2NAPathogenicMicrocephaly 20, Primary, Autosomal RecessiveMoawia et al. 2017 Sister of 617914.1.1
617914.1.3Saudi Arabia2NAPathogenicMicrocephaly 20, Primary, Autosomal RecessiveMoawia et al. 2017 Brother of 617914.1.1
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