NM_004183.4:c.37C>T

HGVS Expressions

  • NG_009033.1:g.6960C>T
  • NM_004183.4:c.37C>T
  • NP_004174.1:p.Arg13Cys
  • NC_000011.10:g.61951843C>T

Associated Genes

Bestrophin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

279701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
153700.1United Arab Emirates1Likely PathogenicMacular Dystrophy, Vitelliform, 2Khan. 2020
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