NM_000747.3:c.865G>A

HGVS Expressions

  • NG_008026.1:g.14255G>A
  • NM_000747.3:c.865G>A
  • NP_000738.2:p.Val289Met
  • NC_000017.11:g.7454341G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

18372

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616313.1United Arab Emirates1Likely PathogenicMyasthenic Syndrome, Congenital, 2A, Slow-ChannelAl-Shamsi et al. 2016 Father had paranoid schizophrenia
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