NM_001558.4:c.172G>A

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  2. NM_001558.4:c.172G>A

HGVS Expressions

  • NG_016275.1:g.7096G>A
  • NM_001558.4:c.172G>A
  • NP_001549.2:p.Glu58Lys

Associated Genes

Interleukin 10 Receptor, Alpha
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Genomic Location

chr11:117988486

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

572945136

Clinvar

733184

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613148.2Lebanon1Likely PathogenicInflammatory Bowel Disease 28, Autosomal RecessiveJalkh et al. 2019
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Contributors

  • Pratibha Nair: 16.11.2020

Edit History

  • Pratibha Nair: 16.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.