NM_018026.3:c.607C>T

HGVS Expressions

  • NG_033900.1:g.145854C>T
  • NM_018026.3:c.607C>T
  • NP_060496.2:p.Arg203Trp
  • NC_000011.10:g.66211206C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

39581

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615009.1United Arab Emirates1PathogenicSchuurs-Hoeijmakers SyndromeSaleh et al. 2021 de novo mutation
615009.2United Arab Emirates1PathogenicSchuurs-Hoeijmakers SyndromeSaleh et al. 2021 de novo mutation
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