NM_024596.4:c.1_114del

  1. Home
  2. NM_024596.4:c.1_114del

HGVS Expressions

  • NM_024596.4:c.1_114del
  • NP_078872.2:p.Met1?
  • NC_000008.11:g.6406668_6409370del

Associated Genes

Microcephalin 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
251200.2.1Saudi Arabia2PathogenicMicrocephaly, Primary Autosomal Recessive, 1Shaheen et al. 2019
251200.2.2Saudi Arabia2PathogenicMicrocephaly, Primary Autosomal Recessive, 1Shaheen et al. 2019 Relative of 251200.2.1
Download Table

Contributors

  • Sayeeda Hana: 09.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 09.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.