NM_032146.5:c.68T>C

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  2. NM_032146.5:c.68T>C

HGVS Expressions

  • NG_008119.2:g.8425T>C
  • NP_816931.1:p.Leu23Pro

Associated Genes

ADP-Ribosylation Factor-Like 6
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Genomic Location

chr3:97768175

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1359075294

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600151.1.1Lebanon2PathogenicBardet-Biedl Syndrome 3Jaffal et al, 2019b
600151.1.2Lebanon2PathogenicBardet-Biedl Syndrome 3Jaffal et al, 2019b Sister of 600151.1.1
600151.1.3Lebanon1Jaffal et al, 2019b Mother of 600151.1.1
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Contributors

  • Sayeeda Hana: 15.10.2020

Edit History

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