NM_018136.5:c.6686_6689del

  1. Home
  2. NM_018136.5:c.6686_6689del

HGVS Expressions

  • NG_015867.1:g.49130_49133del
  • NM_018136.5:c.6686_6689del
  • NP_060606.3:p.Arg2229ThrfsTer10
  • NC_000001.11:g.197102570_197102573del

Associated Genes

Abnormal Spindle-Like, Microcephaly-Associated
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

770540184

Clinvar

694011

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.5Algeria; Lebanon1Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009
Download Table

Contributors

  • Pratibha Nair: 11.07.2021

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 11.07.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.