NM_199355.4:c.1559A>G

HGVS Expressions

  • NG_031879.2:g.86327A>G
  • NM_199355.4:c.1559A>G
  • NP_955387.1:p.Gln520Arg
  • NC_000016.10:g.77353788T>C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615458.1United Arab Emirates2Likely PathogenicMicrocornea, Myopic Chorioretinal Atrophy, And TelecanthusKhan. 2020 This patients has a similarly affected o...
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