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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Nonsense NPHS1 3478C>T Arg1160* Premature Termination Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Missense NPHS1 3059G>T Gly1020Val Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Missense NPHS1 3426A>G Thr1182Ala Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Missense NPHS1 710T>C Leu237Pro Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Missense NPHS1 2734G>A Ala912Thr Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Duplication NPHS1 2673dupCA Frame shift mutation Abid et al., 2012/2012
Nephrotic Syndrome Type 1 proteinuria,hypoalbuminemia,etc Autosomal Recessive 19q13.12 Missense NPHS1 2600G>A Gly867Pro Amino Acid Substitution Abid et al., 2012/2012