Mutation details:

cDNA level identifier (NM_014727):

c.1-793924_*321+1349364del

Gene level identifier:

g.1-793924_20859+1349364del

Reference, alternative allele:

T+2164146, T

Genomic location hg(0)

19:35414996 (not available on ExAC)

Gene name:

KMT2B

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).