NM_133497.4:c.427G>T

HGVS Expressions

  • NG_012181.1:g.5641G>T
  • NM_133497.4:c.427G>T
  • NP_598004.1:p.Glu143Ter
  • NC_000009.12:g.2718166G>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

3010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610356.2.1United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006
610356.2.2United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 First cousin of 610356.2.1
610356.2.3United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 First cousin of 610356.2.1 Sibling of 6...
610356.2.4United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 First cousin of 610356.2.1 Sibling of 6...
610356.2.5United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 First cousin of 610356.2.1 Sibling of 6...
610356.2.6United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 Daughter of 610356.2.1
610356.2.7United Arab Emirates2PathogenicRetinal Cone Dystrophy 3BWu et al. 2006 Daughter of 610356.2.1
610356.G.1United Arab Emirates14Likely PathogenicRetinal Cone Dystrophy 3BKhan. 2020; Georgiou et al. 2021 Group of 7 patients diagnosed either at ...
610356.G.2United Arab EmiratesPathogenicRetinal Cone Dystrophy 3BWu et al. 2006 Unknown number of members from an Emirat...
610356.G.3United Arab Emirates28Likely PathogenicRetinal Cone Dystrophy 3BKhan et al. 2023 Group of 14 patients from 9 families
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