NM_024685.4:c.1892_1896del

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HGVS Expressions

  • NG_016357.1:g.7350_7354del
  • NM_024685.4:c.1892_1896del
  • NP_078961.3:p.Met631AsnfsTer3
  • NC_000012.12:g.76346091_76346095del

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1266814704

Clinvar

2735913

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.8Saudi Arabia1PathogenicBardet-Biedl Syndrome 10Patel et al. 2016
615987.G.3Saudi Arabia4+PathogenicBardet-Biedl Syndrome 10Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 20.08.2024

Edit History

  • Sayeeda Hana: 29.08.2024
  • Sayeeda Hana: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.