NM_080424.4:c.373del

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  2. NM_080424.4:c.373del

HGVS Expressions

  • NG_051286.1:g.15049del
  • NM_080424.4:c.373del
  • NP_004500.4:p.Thr125fs

Associated Genes

Nuclear Body Protein SP110
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Genomic Location

chr2:230212972

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

397515570

Clinvar

65744

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235550.6Palestine2PathogenicHepatic Venoocclusive Disease with ImmunodeficiencyRoscioli et al. 2006 2 similarly affected siblings
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Contributors

  • Pratibha Nair: 01.07.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.