NM_004525.3:c.9358_9359del

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HGVS Expressions

  • NG_012634.1:g.181623_181624del
  • NM_004525.3:c.9358_9359del
  • NP_004516.2:p.Ser3120fs

Associated Genes

Low Density Lipoprotein Receptor-Related Protein 2
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Genomic Location

chr2:169185989-169185990

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

80338750

Clinvar

21421

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222448.1.1Qatar2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'Pt 1' from kindred 6 in the pub...
222448.1.2Qatar2PathogenicDonnai-Barrow SyndromeKantarci et al. 2007 Patient 'Pt 2' from kindred 6 in the pub...
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Contributors

    Edit History

    • Sayeeda Hana: 05.10.2020
    • Asha Deepthi: 21.07.2020
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    © CAGS 2024. All rights reserved.