Mutation details:

Protein level identifier (NP_055542):

p.Arg1487Alafs*7

cDNA level identifier (NM_014727):

c.4458delC

Gene level identifier:

g.9927delC

Reference, alternative allele:

AC, A

Genomic location hg(0)

19:36218846 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).