NM_003322.6:c.1256G>A

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HGVS Expressions

  • NG_009077.1:g.14245G>A
  • NM_003322.6:c.1256G>A
  • NP_003313.3:p.Arg419Gln
  • NC_000006.12:g.35503626C>T

Associated Genes

Tubby-Like Protein 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

770045008

Clinvar

191207

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600132.1Saudi Arabia2PathogenicRetinitis Pigmentosa 14Patel et al. 2016
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Contributors

  • Sayeeda Hana: 20.08.2024

Edit History

  • Sayeeda Hana: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.