NM_016247.4:c.3262C>T

HGVS Expressions

  • NG_028284.1:g.94459C>T
  • NM_016247.4:c.3262C>T
  • NP_057331.2:p.Arg1088Ter
  • NC_000003.12:g.101231117G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

143151

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.5United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 56Khan et al. 2019
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