NM_004793.4:c.2014C>T

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  2. NM_004793.4:c.2014C>T

HGVS Expressions

  • NG_033142.1:g.30552C>T
  • NM_004793.4:c.2014C>T
  • NP_004784.2:p.Arg672Cys
  • NC_000019.10:g.5694901G>A

Associated Genes

Lon Peptidase 1, Mitochondrial
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

777009012

Clinvar

931723

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605490.1.1Saudi Arabia2Likely PathogenicLONP1 Related CataractKhan et al. 2015; Patel et al. 2017
605490.1.2Saudi Arabia2Likely PathogenicLONP1 Related CataractKhan et al. 2015; Patel et al. 2017 Sister of 605490.1.1
605490.1.3Saudi Arabia2Likely PathogenicLONP1 Related CataractKhan et al. 2015; Patel et al. 2017 Brother of 605490.1.1
605490.3.1Saudi Arabia2PathogenicLONP1 Related CataractPatel et al. 2017
605490.3.2Saudi Arabia2PathogenicLONP1 Related CataractPatel et al. 2017 Relative of 605490.3.1
605490.4Saudi Arabia2PathogenicLONP1 Related CataractPatel et al. 2017
605490.1.G.1Saudi Arabia3Khan et al. 2015 Father, mother and sister of 605490.1.1....
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Contributors

  • Sayeeda Hana: 22.02.2023

Edit History

  • Sayeeda Hana: 26.03.2023
  • Sayeeda Hana: 27.02.2023
  • Sayeeda Hana: 22.02.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.