NM_147200.3:c.1313C>A

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  2. NM_147200.3:c.1313C>A

HGVS Expressions

  • NG_032030.1:g.38376C>A
  • NM_147200.3:c.1313C>A
  • NP_671733.2:p.Thr438Asn

Associated Genes

TRAF3-Interacting Protein 2
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Genomic Location

chr6:111572899

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1583223171

Clinvar

812084

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607043.1.1Lebanon2PathogenicDiscoid Lupus ErythematosusNemer et al. 2020
607043.1.2Lebanon2PathogenicDiscoid Lupus ErythematosusNemer et al. 2020 Sibling of 607043.1.1
607043.1.3Lebanon2PathogenicDiscoid Lupus ErythematosusNemer et al. 2020 Sibling of 607043.1.1
607043.1.4Lebanon2PathogenicDiscoid Lupus ErythematosusNemer et al. 2020 Sibling of 607043.1.1
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Contributors

  • Pratibha Nair: 16.12.2020

Edit History

  • Pratibha Nair: 16.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.