Mutation details:

cDNA level identifier (n.a.):

c.(2077+1_2078-1)_(2285+1_2286-1)del

Archive identifier/Other designation:

Exon 12 deletion

Genomic location hg(0)

not available

Gene name:

CP

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).