NM_000350.3:c.2294G>A

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  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
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Genomic Location

chr1:94056689

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61749429

Clinvar

99125

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.G.1Jordan3PathogenicStargardt Disease 1Patel et al, 2018 3 members of a family
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Contributors

  • Sayeeda Hana: 06.07.2020

Edit History

  • Sami Bizzari: 09.01.2023
  • Sayeeda Hana: 06.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.