NM_000350.3:c.2294G>A

  1. Home
  2. NM_000350.3:c.2294G>A

HGVS Expressions

  • NG_009073.1:g.69461G>A
  • NM_000350.3:c.2294G>A
  • NP_000341.2:p.Ser765Asn

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
Back to search Result
Genomic Location

chr1:94056689

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

61749429

Clinvar

99125

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.G.1Jordan3PathogenicStargardt Disease 1Patel et al, 2018 3 members of a family
248200.G.11Saudi Arabia4+Likely PathogenicStargardt Disease 1Patel et al. 2016 Family with unknown number of affected m...
Download Table

Contributors

  • Sayeeda Hana: 06.07.2020

Edit History

  • Sayeeda Hana: 29.08.2024
  • Sami Bizzari: 09.01.2023
  • Sayeeda Hana: 06.07.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.