Mutation details:

Protein level identifier (NP_055542):

p.Arg1109Glufs*73

cDNA level identifier (NM_014727):

c.3325_3325delC

Gene level identifier:

g.5979delC

Reference, alternative allele:

CC, C

Genomic location hg(0)

19:36214899 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).