TMEM216




Genetics Home Reference entry

Diseases associated to this gene:
MKS

Finnish Mutations
Mutation Consequence Amino acid change Reference sequence Articles


Foreign Mutations
Mutation Consequence Amino acid change Reference sequence Population Articles
c.230G>C G77A→splice: T78KfsX30 G77A, T78KfsX30 Palestinian 20512146
c.253C>T R85X British 20512146
c.341T>G L114R Tunisian 20512146