NM_144596.4:c.1347+122T>C

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  2. NM_144596.4:c.1347+122T>C

HGVS Expressions

  • NG_008126.2:g.53422T>C
  • NM_144596.4:c.1347+122T>C
  • NC_000014.9:g.88872574T>C

Associated Genes

Tetratricopeptide Repeat Domain-Containing Protein 8
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

149666634

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600151.2.1Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F003-A" in the publication
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Contributors

  • Sayeeda Hana: 20.06.2022

Edit History

  • Sayeeda Hana: 21.07.2022
  • Sayeeda Hana: 20.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.