NM_003322.6:c.180del

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  2. NM_003322.6:c.180del

HGVS Expressions

  • NG_009077.1:g.5681del
  • NM_003322.6:c.180del
  • NP_003313.3:p.Lys61SerfsTer48
  • NC_000006.12:g.35512191del

Associated Genes

Tubby-Like Protein 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

786205650

Clinvar

191330

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613843.G.4Saudi Arabia4+Likely PathogenicLeber Congenital Amaurosis 15Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 30.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 30.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.