NM_022168.4:c.1850T>C

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  2. NM_022168.4:c.1850T>C

HGVS Expressions

  • NG_011495.1:g.45921T>C
  • NM_022168.4:c.1850T>C
  • NP_071451.2:p.Ile617Thr
  • NC_000002.12:g.162277609A>G

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2105197765

Clinvar

1700152

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615846.2Saudi Arabia1Likely PathogenicAicardi-Goutieres Syndrome 7Monies et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 16.11.2023

Edit History

  • Pratibha Nair: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.