NM_001029883.3:c.802C>T

HGVS Expressions

  • NG_021427.1:g.5802C>T
  • NM_001029883.3:c.802C>T
  • NP_001025054.1:p.Gln268Ter
  • NC_000002.12:g.29073460G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

866617

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613428.1Lebanon1PathogenicRetinitis Pigmentosa 54Gerth-Kahlert et al. 2017 Lebanese/Armenian origin
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