Mutation details:

cDNA level identifier (NM_014727):

c.3528+2T>A

Gene level identifier:

g.7070T>A

Reference, alternative allele:

T, A

Genomic location hg(0)

19:36215990 (not available on ExAC)

Gene name:

KMT2B

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).