A deletion of a single G residue at position 3978 (Col1a2:NM_007743.3:c.3978del) is predicted to result in a frameshift mutation and an alteration of the last 48 amino acids in the encoded protein. (J:4348, J:17202, J:41994)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count