NM_031885.5:c.700C>T

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HGVS Expressions

  • NG_009312.2:g.18888C>T
  • NM_031885.5:c.700C>T
  • NP_114091.4:p.Arg234Ter
  • NC_000016.10:g.56506137G>A

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

779690256

Clinvar

554001

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.7Saudi Arabia2PathogenicBardet-Biedl Syndrome 2Patel et al. 2016
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Contributors

  • Sayeeda Hana: 21.08.2024

Edit History

  • Sayeeda Hana: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.