NM_001298.3:c.661C>T

HGVS Expressions

  • NG_009097.1:g.50804C>T
  • NM_001298.3:c.661C>T
  • NP_001289.1:p.Arg221Ter
  • NC_000002.12:g.98391958C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

962966

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.7Saudi Arabia2PathogenicRetinitis PigmentosaPatel et al. 2016
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