NM_031885.5:c.508G>A

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HGVS Expressions

  • NG_009312.2:g.14140G>A
  • NM_031885.5:c.508G>A
  • NP_114091.4:p.Asp170Asn
  • NC_000016.10:g.56510885C>T

Associated Genes

BBS2 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205498

Clinvar

191068

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615981.6Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 2Patel et al. 2016
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Contributors

  • Sayeeda Hana: 20.08.2024

Edit History

  • Sayeeda Hana: 20.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.