NM_031885.5:c.1015C>T

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HGVS Expressions

  • NG_009312.2:g.22643C>T
  • NM_031885.5:c.1015C>T
  • NP_114091.4:p.Arg339Ter
  • NC_000016.10:g.56502382G>A

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

193922710

Clinvar

35754

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.4United Arab Emirates2Likely PathogenicBardet-Biedl Syndrome 2Khan. 2020
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Contributors

  • Asha Deepthi: 16.05.2021

Edit History

  • Asha Deepthi: 16.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.