Mutation details:

cDNA level identifier (NM_014727):

c.1-17822_*321+147082del

Gene level identifier:

g.1-17822_20859+147082del

Reference, alternative allele:

A+185761, A

Genomic location hg(0)

19:36191099 (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).