NM_000350.3:c.4867G>C

  1. Home
  2. NM_000350.3:c.4867G>C

HGVS Expressions

  • NG_009073.2:g.104757G>C
  • NM_000350.3:c.4867G>C
  • NP_000341.2:p.Gly1623Arg
  • NC_000001.11:g.94021391C>G

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604116.1Saudi Arabia2Likely PathogenicCone-Rod Dystrophy 3Patel et al. 2016
601718.G.4Saudi Arabia4+Likely PathogenicRetinitis Pigmentosa 19Patel et al. 2016 Family with unknown number of affected m...
Download Table

Contributors

  • Sayeeda Hana: 24.07.2024

Edit History

  • Sayeeda Hana: 21.08.2024
  • Sayeeda Hana: 24.07.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.