NM_003626.5:c.1070A>G

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HGVS Expressions

  • NM_003626.5:c.1070A>G
  • NP_003617.1:p.His357Arg
  • NC_000011.10:g.70330312A>G

Associated Genes

PTPRF-Interacting Protein Alpha-1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1404029485

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611054.1.1Syria2Likely PathogenicReuter et al. 2017 Authors classified this gene variant as ...
611054.1.2Syria2Likely PathogenicReuter et al. 2017 Relative of 611054.1.1
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Contributors

  • Sayeeda Hana: 03.10.2024

Edit History

  • Sayeeda Hana: 29.10.2024
  • Sayeeda Hana: 03.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.