NM_013447.3:c.1475G>A

HGVS Expressions

  • NG_047146.1:g.28473G>A
  • NM_013447.3:c.1475G>A
  • NP_038475.2:p.Cys492Tyr
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Genomic Location

chr19:14755069 (GRCh38.p12)

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

222005

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125630.1.1Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016
125630.1.2Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Sibling of 125630.1.1
125630.1.3Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Sibling of 125630.1.1
125630.1.4Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Dizygotic twin of 125630.1.3
125630.1.5Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Sibling of 125630.1.1
125630.1.6Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Daughter of 125630.1.2
125630.1.7Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Son of 125630.1.5
125630.2.1Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981
125630.2.2Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Sibling of 125630.2.1
125630.2.3Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Son of 125630.2.1
125630.2.4Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.1
125630.2.5Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.1
125630.2.6Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.2
125630.2.7Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Monozygotic twin of 125630.2.6
125630.2.8Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.2
125630.2.9Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Son of 125630.2.2
125630.2.10Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.3
125630.2.11Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Son of 125630.2.4
125630.2.12Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.7
125630.2.13Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.7
125630.2.14Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016; Epstein and Kidd. 1981 Daughter of 125630.2.8
125630.3Lebanon1PathogenicVibratory UrticariaBoyden et al., 2016 Has two affected children and one affect...
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