NM_000329.3:c.1067dup

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HGVS Expressions

  • NG_008472.2:g.16712dup
  • NM_000329.3:c.1067dup
  • NP_000320.1:p.Asn356LysfsTer9
  • NC_000001.11:g.68438255dup

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

281865520

Clinvar

596673

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.9Saudi Arabia1Likely PathogenicLeber Congenital Amaurosis 2Khan et al. 2014
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Contributors

  • Sayeeda Hana: 04.09.2024

Edit History

  • Sayeeda Hana: 04.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.