NM_000350.3:c.1804C>T

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HGVS Expressions

  • NG_009073.1:g.63440C>T
  • NM_000350.3:c.1804C>T
  • NP_000341.2:p.Arg602Trp

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 4
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Genomic Location

chr1:94062710

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

61749409

Clinvar

99084

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
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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.