NM_014625.4:c.538G>A

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HGVS Expressions

  • NG_007535.1:g.23723G>A
  • NM_014625.4:c.538G>A
  • NP_055440.1:p.Val180Met

Associated Genes

Podocin
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Genomic Location

chr1:179557227

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

74315347

Clinvar

5368

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600995.3Lebanon1Likely PathogenicNephrotic Syndrome, Type 2Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 16.11.2020

Edit History

  • Pratibha Nair: 16.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.