Mutation details:

Protein level identifier (NP_055542):

p.Ser1656del

cDNA level identifier (NM_014727):

c.4966_4968delTCC

Gene level identifier:

g.11996_11998delTCC

Reference, alternative allele:

GTCC, G

Genomic location hg(0)

19:36220915 (not available on ExAC)

Gene name:

KMT2B

Consequence:

in frame indel

Pathogenicity scoring:

Definitely pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

28921672;

Number of all included cases:

1 heterozygous (1 in total).