Exon 4 contains a T-to-C transition at position 467 (c.467T>G) that results in an amino acid substitution of leucine with arginine at position 156 (p.L156R). This allele is hypomorphic. (J:142703)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count