NM_170784.3:c.871G>T

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HGVS Expressions

  • NG_009109.2:g.26575G>T
  • NM_170784.3:c.871G>T
  • NP_740754.1:p.Val291Phe
  • NC_000020.11:g.10412644C>A

Associated Genes

MKKS Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

910468710

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605231.2.1Saudi Arabia2PathogenicBardet-Biedl syndrome 6Abu-Safieh et al. 2012 "BBS-F019-A" in the publication
605231.2.2Saudi Arabia2PathogenicBardet-Biedl syndrome 6Abu-Safieh et al. 2012 Sibling of 605231.2.1 "BBS-F019-B" in t...
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Contributors

  • Sayeeda Hana: 13.06.2022

Edit History

  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 13.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.