Mutation details:

Protein level identifier (NP_055542):

p.Gln1802Leufs*85

cDNA level identifier (NM_014727):

c.5405_5429delAGACCATTGTGCACAGCCCCGCCCC

Gene level identifier:

g.12816_12840delAGACCATTGTGCACAGCCCCGCCCC

Reference, alternative allele:

CAGACCATTGTGCACAGCCCCGCCCC, C

Genomic location hg(0)

19:36221735 (not available on ExAC)

Gene name:

KMT2B

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).