Mutation details:

Protein level identifier (NP_055542):

p.Arg1777Pro

cDNA level identifier (NM_014727):

c.5330G>C

Gene level identifier:

g.12741G>C

Reference, alternative allele:

G, C

Genomic location hg(0)

19:36221661 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).