Mutation details:

Protein level identifier (NP_055542):

p.Arg2517Trp

cDNA level identifier (NM_014727):

c.7549C>T

Gene level identifier:

g.19243C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

19:36228163 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).