Mutation details:

cDNA level identifier (NM_014727):

c.1-1011670_*321+1910322del

Archive identifier/Other designation:

deletion of exons 1-37

Genomic location hg(0)

not available

Gene name:

KMT2B

Consequence:

structural variation

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous (10 in total).