NM_019613.4:c.799C>T

HGVS Expressions

  • NG_046895.1:g.36233C>T
  • NM_019613.4:c.799C>T
  • NP_062559.2:p.Gln267Ter
  • NC_000017.11:g.82617303G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

523671

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617977.1.1United Arab Emirates2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017
617977.1.2United Arab Emirates2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017 Sibling of 617977.1.1
617977.1.3United Arab Emirates2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017 Sibling of 617977.1.1
617977.1.4United Arab EmiratesSuleiman et al. 2017 Father of 617977.1.1
617977.1.5United Arab Emirates1Suleiman et al. 2017 Mother of 617977.1.1
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