Mutation details:

cDNA level identifier (NM_014727):

c.1-1511182_*321+854732del

Gene level identifier:

g.1-1511182_20859+854732del

Reference, alternative allele:

T+2386771, T

Genomic location hg(0)

19:34697739 (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:

1 heterozygous (1 in total).