NM_033028.5:c.1311_1312insT

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  2. NM_033028.5:c.1311_1312insT

HGVS Expressions

  • NG_009416.3:g.55619_55620insT
  • NM_033028.5:c.1311_1312insT
  • NP_149017.2:p.Lys438Ter
  • NC_000015.10:g.72736824_72736825insT

Associated Genes

BBS4 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

dbSNP

1555502637

Clinvar

1324345

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.8Saudi Arabia2+Likely PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 15.08.2024

Edit History

  • Sayeeda Hana: 15.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.