NM_033028.5:c.1091C>A

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  2. NM_033028.5:c.1091C>A

HGVS Expressions

  • NG_009416.3:g.53962C>A
  • NM_033028.5:c.1091C>A
  • NP_149017.2:p.Ala364Glu
  • NC_000015.10:g.72735167C>A

Associated Genes

BBS4 Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

28938468

Clinvar

9148

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.G.2Saudi Arabia4+Likely PathogenicBardet-Biedl Syndrome 4Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 29.08.2024

Edit History

  • Sayeeda Hana: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.