Intron 28-3'UTR of SCN5A; mutation of the tyrosine (TAT) 1981 was mutated in asparagine (AAT) and a EcoRV site was introduced within the 3'UTR. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count