NM_001298.3:c.1114C>T

HGVS Expressions

  • NG_009097.1:g.55130C>T
  • NM_001298.3:c.1114C>T
  • NP_001289.1:p.Pro372Ser
  • NC_000002.12:g.98396284C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

812281

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.3United Arab Emirates2Likely PathogenicAchromatopsia 2Khan. 2020
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