NM_004646.3:c.1170+2T>C

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  2. NM_004646.3:c.1170+2T>C

HGVS Expressions

  • NG_013356.2:g.25653T>C
  • NM_004646.3:c.1170+2T>C

Associated Genes

Nephrin
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Genomic Location

chr19:35848635

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256300.3.1Tunisia2PathogenicNephrotic Syndrome, Type 1Mbarek et al. 2011
256300.3.2Tunisia2PathogenicNephrotic Syndrome, Type 1Mbarek et al. 2011 Brother of 256300.3.1
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Contributors

  • Sayeeda Hana: 24.11.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 24.11.2019
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.