Mutation details:

Protein level identifier (NP_055542):

p.Gln1410Argfs*12

cDNA level identifier (NM_014727):

c.4229delA

Gene level identifier:

g.9530_9530delA

Reference, alternative allele:

CA, C

Genomic location hg(0)

19:36218449 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).