Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Renal tubular acidosis, distal, autosomal recessive

OMIM:602722
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system


Mutations

Gene SymbolATP6V0A4
Reference transcriptNM_020632.2
DNA Changec.322C>T
A.A. Changep.Gln108X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceVargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol. 2006 May;17(5):1437-43.
Gene SymbolATP6V0A4
Reference transcriptNM_020632.2
DNA Changec.571C>T
A.A. Changep.Arg191X
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceVargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol. 2006 May;17(5):1437-43.
Gene SymbolATP6V0A4
Reference transcriptNM_020632.2
DNA Changec.1181_1185delCCCCC
A.A. Changep.Ala394ValfsX34
Exon/Intronexon 13
Mutation Typedeletion
ReferenceVargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol. 2006 May;17(5):1437-43.
Gene SymbolATP6V0A4
Reference transcriptNM_020632.2
DNA Changec.828_831delAACA
A.A. Changep.Thr277SerfsX25
Exon/Intronexon 10
Mutation Typedeletion
ReferenceVargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol. 2006 May;17(5):1437-43.
Gene SymbolATP6V0A4
Reference transcriptNM_020632.2
DNA Changec.387C>A
A.A. Changep.Tyr129X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceVargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, D?chaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunema?tre X, Blanchard A.Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol. 2006 May;17(5):1437-43.