NM_031885.4:c.565C>T

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HGVS Expressions

  • NG_009312.1:g.15280C>T
  • NM_031885.4:c.565C>T
  • NP_114091.3:p.Arg189Ter
  • NC_000016.10:g.56510004G>A

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1273181642

Clinvar

550801

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.2Tunisia2NALikely PathogenicBardet-Biedl Syndrome 2Smaoui et al. 2006 Patient from family '57008' in the publi...
615981.3Tunisia2NALikely PathogenicBardet-Biedl Syndrome 2Smaoui et al. 2006 Patient from family '57018' in the publi...
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 23.04.2020
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.