NM_001556.3:c.849G>A

HGVS Expressions

  • NG_041793.1:g.49957G>A
  • NM_001556.3:c.849G>A
  • NP_001547.1:p.Trp283Ter
  • NC_000008.11:g.42316258G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615592.1United Arab Emirates2Likely PathogenicImmunodeficiency 15BAl-Shamsi et al. 2016 Two deceased siblings with same presenta...
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