NM_012275.2:c.338C>T

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  2. NM_012275.2:c.338C>T

HGVS Expressions

  • NG_031864.1:g.8910C>T
  • NM_012275.2:c.338C>T
  • NP_036407.1:p.Ser113Leu
  • NC_000002.12:g.113062547C>T

Associated Genes

Interleukin 36 Receptor Antagonist
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

144478519

Clinvar

30490

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614204.1.1Lebanon2PathogenicPsoriasis 14, Pustular Abbas et al, 2013 Proband
614204.1.2Lebanon2PathogenicPsoriasis 14, Pustular Abbas et al, 2013 Sister of 614204.1.1
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Contributors

  • Sayeeda Hana: 15.07.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 15.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.