NM_001298.3:c.847C>T

HGVS Expressions

  • NG_009097.1:g.54863C>T
  • NM_001298.3:c.847C>T
  • NP_001289.1:p.Arg283Trp
  • NC_000002.12:g.98396017C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

9474

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.1.1United Arab Emirates1PathogenicAchromatopsia 2Ahuja et al. 2008
216900.1.2United Arab Emirates1PathogenicAchromatopsia 2Ahuja et al. 2008 Brother of 216900.1.1
216900.2.1United Arab Emirates2PathogenicAchromatopsia 2Ahuja et al. 2008
216900.2.2United Arab Emirates2PathogenicAchromatopsia 2Ahuja et al. 2008 Brother of 216900.2.1
216900.5United Arab Emirates1Likely PathogenicAchromatopsia 2Khan. 2020
216900.6United Arab Emirates2Likely PathogenicAchromatopsia 2Khan. 2020
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