NM_004793.4:c.1612C>T

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  2. NM_004793.4:c.1612C>T

HGVS Expressions

  • NG_033142.1:g.26353C>T
  • NM_004793.4:c.1612C>T
  • NP_004784.2:p.Arg538Cys
  • NC_000019.10:g.5699100G>A

Associated Genes

Lon Peptidase 1, Mitochondrial
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Clinvar Clinical Significance

Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201664019

Clinvar

1191443

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605490.2Saudi Arabia2PathogenicLONP1 Related CataractPatel et al. 2017
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Contributors

  • Sayeeda Hana: 14.03.2023

Edit History

  • Sayeeda Hana: 14.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.