NM_004646.3:c.1317T>G

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  2. NM_004646.3:c.1317T>G

HGVS Expressions

  • NG_013356.2:g.26124T>G
  • NM_004646.3:c.1317T>G
  • NP_004637.1:p.Tyr439Ter

Associated Genes

Nephrin
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Genomic Location

chr19:35848164

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

776391938

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256300.1.1Lebanon2PathogenicNephrotic Syndrome, Type 1Gharibeh et al, 2015 While the homozygous mutation led to con...
256300.1.2Lebanon2PathogenicNephrotic Syndrome, Type 1Gharibeh et al, 2015 Sister of 256300.1.1
256300.1.3Lebanon2PathogenicNephrotic Syndrome, Type 1Gharibeh et al, 2015 Brother of 256300.1.1
256300.1.4Lebanon2PathogenicNephrotic Syndrome, Type 1Gharibeh et al, 2015 Brother of 256300.1.1
256300.1.5Lebanon1PathogenicGharibeh et al, 2015 Brother of 256300.1.1
256300.1.6Lebanon1PathogenicGharibeh et al, 2015 Father of 256300.1.1
256300.1.7Lebanon1PathogenicGharibeh et al, 2015 Mother of 256300.1.1
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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 2024. All rights reserved.
© CAGS 2024. All rights reserved.