NM_022168.4:c.2062A>G

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HGVS Expressions

  • NG_011495.1:g.46601A>G
  • NM_022168.4:c.2062A>G
  • NP_071451.2:p.Lys688Glu
  • NC_000002.12:g.162276929T>C

Associated Genes

Interferon-Induced Helicase C Domain-Containing Protein 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1682679958

Clinvar

2252122

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619773.1United Arab Emirates2Uncertain SignificanceImmunodeficiency 95Hale et al, 2023
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Contributors

  • Asha Deepthi: 15.07.2024

Edit History

  • Asha Deepthi: 15.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.