Mutation details:

Protein level identifier (NP_055542):

p.Ala2139Glyfs*6

cDNA level identifier (NM_014727):

c.6413_6414dupC

Gene level identifier:

g.14943_14944insC

Reference, alternative allele:

C, CC

Genomic location hg(0)

19:36223863 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).