NM_005984.5:c.205G>T

HGVS Expressions

  • NG_033863.1:g.5825G>T
  • NM_005984.5:c.205G>T
  • NP_005975.1:p.Asp69Tyr
  • NC_000022.11:g.19178039C>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

988807

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618197.1.1United Arab Emirates2NALikely PathogenicMyasthenic Syndrome, Congenital, 23, PresynapticAlShamsi et al. 2021 Index patient - 'patient IV-1' in the pu...
618197.1.2United Arab Emirates2NALikely PathogenicMyasthenic Syndrome, Congenital, 23, PresynapticAlShamsi et al. 2021 'Patient III-10' in the publication, rel...
618197.1.3United Arab Emirates2NALikely PathogenicMyasthenic Syndrome, Congenital, 23, PresynapticAlShamsi et al. 2021 Relative of 618197.1.1
618197.1.4United Arab Emirates2NALikely PathogenicMyasthenic Syndrome, Congenital, 23, PresynapticAlShamsi et al. 2021 'Patient III-11' in the publication, rel...
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