NM_001042492.2:c.1846del

  1. Home
  2. NM_001042492.2:c.1846del

HGVS Expressions

  • NG_009018.1:g.135119del
  • NM_001042492.2:c.1846del
  • NP_001035957.1:p.Gln616ArgfsTer15
  • NC_000017.11:g.31225095del

Associated Genes

Neurofibromin 1
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162200.9.1United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014 Proband
162200.9.2United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014 Sister of 162200.9.1
162200.9.3United Arab Emirates1Likely PathogenicNeurofibromatosis, Type IBen-Salem et al. 2014 Mother of 162200.9.1
Download Table

Contributors

  • Sayeeda Hana: 17.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 17.07.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.