NM_019613.4:c.673C>T

HGVS Expressions

  • NG_046895.1:g.34462C>T
  • NM_019613.4:c.673C>T
  • NP_062559.2:p.Arg225Ter
  • NC_000017.11:g.82619074G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191088

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617977.2.1Saudi Arabia; Syria2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017 Patient was from a Saudi Arabian family ...
617977.2.2Saudi Arabia; Syria2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017 Sibling of 617977.2.1
617977.2.3Saudi Arabia; Syria1Suleiman et al. 2017 Mother of 617977.2.1
617977.3.1Saudi Arabia; Syria2PathogenicNeurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without SeizuresSuleiman et al. 2017 Patient was from a Saudi Arabian family ...
617977.3.2Saudi Arabia; Syria1Suleiman et al. 2017 Father of 617977.3.1
617977.3.3Saudi Arabia; Syria1Suleiman et al. 2017 Mother of 617977.3.1
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