Mutation details:

Protein level identifier (NP_055542):

p.Met1202Aspfs*22

cDNA level identifier (NM_014727):

c.3596_3697insC

Gene level identifier:

g.7268_7269insC

Reference, alternative allele:

G, GC

Genomic location hg(0)

19:36216188 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).