NM_000350.3:c.1532G>A

  1. Home
  2. NM_000350.3:c.1532G>A

HGVS Expressions

  • NG_009073.2:g.48436G>A
  • NM_000350.3:c.1532G>A
  • NP_000341.2:p.Arg511His
  • NC_000001.11:g.94077712C>T

Associated Genes

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

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

140482171

Clinvar

283387

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604116.2Saudi Arabia1Likely PathogenicCone-Rod Dystrophy 3Patel et al. 2016
Download Table

Contributors

  • Sayeeda Hana: 13.08.2024

Edit History

  • Sayeeda Hana: 13.08.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.