NM_001042492.2:c.7380del

HGVS Expressions

  • NG_009018.1:g.260265del
  • NM_001042492.2:c.7380del
  • NP_001035957.1:p.Leu2461PhefsTer28
  • NC_000017.11:g.31350241del

Associated Genes

Neurofibromin 1
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.11Iraq1PathogenicNeurofibromatosis, Type IAl-Gazali and Ali, 2010
© CAGS 2024. All rights reserved.