RPGRIP1L


RPGR-interacting protein 1-like protein

Ensembl gene entry
Ensembl gene location
Omim gene
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.1033C>T Q345X NM_015272.2 French 17558409
c.2614C>T Q872X NM_015272.2 French 17558409
c.394A>T R132X NM_015272.2 Moroccan 17558409