NM_004646.3:c.1379G>A

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  2. NM_004646.3:c.1379G>A

HGVS Expressions

  • NG_013356.2:g.26186G>A
  • NM_004646.3:c.1379G>A
  • NP_004637.1:p.Arg460Gln
  • NC_000019.10:g.35848102C>T

Associated Genes

Nephrin
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

386833880

Clinvar

56438

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

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 24.11.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.