NM_058229.4:c.727G>C

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  2. NM_058229.4:c.727G>C

HGVS Expressions

  • NM_058229.4:c.727G>C
  • NP_478136.1:p.Gly243Arg

Associated Genes

F-Box Only Protein 32
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Genomic Location

chr8:123506499

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

771939133

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
115200.1.01Saudi Arabia2PathogenicCardiomyopathy, Dilated, 1AAl-Hassnan et al. 2016 Proband
115200.1.02Saudi Arabia2PathogenicCardiomyopathy, Dilated, 1AAl-Hassnan et al. 2016 Sister of 115200.1.01
115200.1.03Saudi Arabia2PathogenicCardiomyopathy, Dilated, 1AAl-Hassnan et al. 2016 Sister of 115200.1.01
115200.1.04Saudi Arabia2PathogenicCardiomyopathy, Dilated, 1AAl-Hassnan et al. 2016 Brother of 115200.1.01
115200.1.05Saudi Arabia1Al-Hassnan et al. 2016 Father of 115200.1.01
115200.1.06Saudi Arabia1Al-Hassnan et al. 2016 Mother of 115200.1.01
115200.1.07Saudi Arabia1Al-Hassnan et al. 2016 Brother of 115200.1.01
115200.1.08Saudi Arabia1Al-Hassnan et al. 2016 Sister of 115200.1.01
115200.1.09Saudi Arabia1Al-Hassnan et al. 2016 Brother of 115200.1.01
115200.1.10Saudi Arabia1Al-Hassnan et al. 2016 Brother of 115200.1.01
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Contributors

  • Sayeeda Hana: 22.07.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 22.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.