Mutation details:

cDNA level identifier (NM_014727):

c.1-1190950_*321+78009del

Gene level identifier:

g.1-1190950_20859+78009del

Reference, alternative allele:

C+1289817, C

Genomic location hg(0)

19:35017971 (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).