Nucleotide Variant table


All phenotypes reflect the status at the time of reporting.


Total number of variants: 480
Total number of genotypes: 1,012
Location Base change Amino acid change Pathogenicity Genotypes & Phenotypes Residual activity Dominant negative effect Type of Variant ClinVar link Mastermind link Published at Amino acid change old nomenclature Phenotype
Please wait ... Connection lost. Reconnecting ... Internal server error
 
JKU

The ALPL Mutation Database not intended for mobile use.

Because of the importance of the data being collected - and also the connected privacy concerns, we ask you to use this site on your Computer rather than on your mobile device.

Please refer to the Homepage for more information about the ALPL Mutation Database.