NM_152618.3:c.880T>G

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  2. NM_152618.3:c.880T>G

HGVS Expressions

  • NG_021203.1:g.15071T>G
  • NM_152618.2:c.880T>G
  • NP_689831.2:p.Tyr294Asp

Associated Genes

BBS12 Gene
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Genomic Location

chr4:122742772

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615989.1Lebanon1PathogenicBardet-Biedl Syndrome 12Jaffal et al, 2019b
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 15.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.