Mutation details:

Protein level identifier (NP_055542):

p.Ile2694Serfs*44

cDNA level identifier (NM_014727):

c.8079delC

Gene level identifier:

g.20469_20469delC

Reference, alternative allele:

CC, C

Genomic location hg(0)

19:36229388 (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).