NM_006949.4:c.1430C>T

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HGVS Expressions

  • NG_016709.1:g.14218C>T
  • NM_006949.4:c.1430C>T
  • NP_008880.2:p.Pro477Leu
  • NC_000019.10:g.7646322C>T

Associated Genes

Syntaxin-Binding Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121918540

Clinvar

7858

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613101.1.1United Arab Emirates2NAPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseasePagel et al. 2012
613101.1.2United Arab Emirates2NAPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseasePagel et al. 2012 Brother of 613101.1.1
613101.2.1Saudi Arabia2NAPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseasePagel et al. 2012; zur Stadt et al. 2009
613101.2.2Saudi Arabia2NAPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseasePagel et al. 2012 Brother of 613101.2.1
613101.3United Arab Emirates2NAPathogenicHemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion DiseasePagel et al. 2012
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Contributors

  • Asha Deepthi: 03.08.2022

Edit History

  • Asha Deepthi: 03.08.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.