This allele contains an 8 bp deletion in exon 2 encompassing codons 79 and 80, producing a frame shift with a stop codon 3 bp from the deletion. The predicted product is truncated at the proximal end of the second of four extracellular cysteine-rich domains. (J:111512)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count