NM_000350.3:c.2815G>T

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  2. NM_000350.3:c.2815G>T

HGVS Expressions

  • NG_009073.2:g.79126G>T
  • NM_000350.3:c.2815G>T
  • NP_000341.2:p.Glu939Ter
  • NC_000001.11:g.94047022C>A

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205447

Clinvar

190985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.G.3Saudi Arabia2+Likely PathogenicRetinitis Pigmentosa 19Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 07.08.2024

Edit History

  • Sayeeda Hana: 13.08.2024
  • Sayeeda Hana: 07.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.