NM_152384.3:c.952GAA[1]

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  2. NM_152384.3:c.952GAA[1]

HGVS Expressions

  • NG_011567.1:g.30013GAA[1]
  • NM_152384.3:c.952GAA[1]
  • NP_689597.1:p.Glu319del
  • NC_000002.12:g.169504508GAA[1]

Associated Genes

BBS5 Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

911725289

Clinvar

191307

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615983.4Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 5 Patel 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.