This spontaneous mutation has a an extra G inserted in the coding region of Cacna1a in the poly(G) stretch at coding nucleotides 106-110 of the cDNA (NM_001252060). (J:198844, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count