NM_001004334.4:c.864G>A

HGVS Expressions

  • NG_032655.2:g.9355G>A
  • NM_001004334.4:c.864G>A
  • NP_001004334.3:p.Trp288Ter
  • NC_000017.11:g.38339456C>T
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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
614565.2Saudi Arabia2Likely PathogenicNight Blindness, Congenital Stationary, Type 1EPatel et al. 2016
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