NM_004646.3:c.614_621delinsTT

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HGVS Expressions

  • NG_013356.2:g.24640_24647delinsTT
  • NM_004646.3:c.614_621delinsTT
  • NP_004637.1:p.Thr205_Arg207delinsIle

Associated Genes

Nephrin
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Genomic Location

chr19:35849641-35849648

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

1555763603

Clinvar

56518

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256300.4Tunisia1PathogenicNephrotic Syndrome, Type 1Mbarek et al. 2011
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Contributors

  • Sayeeda Hana: 24.11.2019

Edit History

  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 24.11.2019
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© CAGS 2025. All rights reserved.