NM_001122630.2:c.670C>T

HGVS Expressions

  • NG_008022.1:g.5979C>T
  • NM_001122630.2:c.670C>T
  • NP_000067.1:p.Gln235Ter
  • NC_000011.10:g.2884787G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

132862

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
130650.1United Arab Emirates1Likely PathogenicBeckwith-Wiedemann SyndromeBastaki et al. 2016
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