NM_000350.3:c.6286G>A

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HGVS Expressions

  • NG_009073.2:g.125046G>A
  • NM_000350.3:c.6286G>A
  • NP_000341.2:p.Glu2096Lys
  • NC_000001.11:g.94001102C>T

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61750646

Clinvar

99445

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.12Saudi Arabia2PathogenicStargardt Disease 1Patel et al. 2016
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Contributors

  • Sayeeda Hana: 20.08.2024

Edit History

  • Sayeeda Hana: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.