NM_144596.3:c.489+1G>A

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HGVS Expressions

  • NG_008126.2:g.22045G>A
  • NM_144596.3:c.489+1G>A
  • NC_000014.9:g.88841197G>A

Associated Genes

Tetratricopeptide Repeat Domain-Containing Protein 8
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615985.G.1Tunisia4NAUncertain SignificanceBardet-Biedl Syndrome 8Smaoui et al. 2006 One patient each from families '57006 &5...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 05.05.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.