Mutation details:

cDNA level identifier (NM_014727):

c.1-4483562_*89del

Gene level identifier:

g.1-4483562_20627del

Reference, alternative allele:

T+4504189, T

Genomic location hg(0)

19:31725359 (not available on ExAC)

Gene name:

KMT2B

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).