NM_133497.4:c.564G>C

HGVS Expressions

  • NG_012181.1:g.5778G>C
  • NM_133497.4:c.564G>C
  • NP_598004.1:p.Trp188Cys
  • NC_000009.12:g.2718303G>C
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1468960

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610356.G.2United Arab EmiratesPathogenicRetinal Cone Dystrophy 3BWu et al. 2006 Unknown number of members from an Emirat...
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