NM_014634.4:c.904C>T

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  2. NM_014634.4:c.904C>T

HGVS Expressions

  • NM_014634.4:c.904C>T
  • NP_055449.1:p.Arg302Cys
  • NC_000022.11:g.21925650G>A

Associated Genes

Protein Phosphatase, Magnesium/Manganese-Dependent, 1F
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

945902372

Clinvar

1329853

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
211600.1.1Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019 Patient had a similarly affected decease...
211600.1.2Saudi Arabia2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 1Maddirevula et al. 2019 Cousin of 211600.1.1
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Contributors

  • Sayeeda Hana: 18.07.2024

Edit History

  • Sayeeda Hana: 18.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.