NM_005219.5:c.2332C>T

HGVS Expressions

  • NG_011594.2:g.50538C>T
  • NM_005219.5:c.2332C>T
  • NP_005210.3:p.Gln778Ter
  • NC_000005.10:g.141573518G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

183344

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616632.1.1Saudi Arabia2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeErcan-Sencicek et al. 2015 Patient had a sibling that passed away a...
616632.1.2Saudi Arabia2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeAlazami et al. 2015; Ercan-Sencicek et al. 2015 Sibling of 616632.1.1
616632.1.3Saudi Arabia2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeErcan-Sencicek et al. 2015 Sibling of 616632.1.1
616632.1.4Saudi Arabia2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeErcan-Sencicek et al. 2015 Sibling of 616632.1.1
616632.1.5Saudi Arabia2PathogenicSeizures, Cortical Blindness, and Microcephaly SyndromeErcan-Sencicek et al. 2015 Sibling of 616632.1.1
616632.1.6Saudi Arabia1Ercan-Sencicek et al. 2015 Father of 616632.1.1
616632.1.7Saudi Arabia1Ercan-Sencicek et al. 2015 Mother of 616632.1.1
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