Mutation details:

Protein level identifier (NP_055542):

p.Glu1234Lys

cDNA level identifier (NM_014727):

c.3700G>A

Gene level identifier:

g.7517G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

19:36216437 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).