NM_000329.3:c.1366del

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  2. NM_000329.3:c.1366del

HGVS Expressions

  • NG_008472.2:g.23811del
  • NM_000329.3:c.1366del
  • NP_000320.1:p.Glu456LysfsTer30
  • NC_000001.11:g.68431149del

Associated Genes

Retinal Pigment Epithelium-Specific Protein, 65-kD
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

786205444

Clinvar

190982

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613794.1Saudi Arabia2Likely PathogenicRetinitis Pigmentosa 20Patel et al. 2016
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Contributors

  • Sayeeda Hana: 14.08.2024

Edit History

  • Sayeeda Hana: 14.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.