Mutation details:

Protein level identifier (NP_055542):

p.Glu1009Glyfs*9

cDNA level identifier (NM_014727):

c.3026_3027delAG

Gene level identifier:

g.5452_5453delAG

Reference, alternative allele:

GAG, G

Genomic location hg(0)

19:36214371 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).