NM_001278293.3:c.431C>T

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  2. NM_001278293.3:c.431C>T

HGVS Expressions

  • NG_008119.2:g.28321C>T
  • NM_001278293.3:c.431C>T
  • NP_001265222.1:p.Ser144Phe
  • NC_000003.12:g.97788071C>T

Associated Genes

ADP-Ribosylation Factor-Like 6
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600151.2.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F003-A" in the publication
600151.2.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.2.1 "BBS-F003-B" in t...
600151.2.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.2.1 "BBS-F003-C" in t...
600151.2.4Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.2.1 "BBS-F003-D" in t...
600151.2.5Saudi Arabia2PathogenicBardet-Biedl Syndrome 3Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 600151.2.1 "BBS-F003-E" in t...
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Contributors

  • Sayeeda Hana: 10.06.2022

Edit History

  • Sayeeda Hana: 21.07.2022
  • Sayeeda Hana: 10.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.