Mutation details:

cDNA level identifier (NM_014727):

c.5198-4_5206delACAGGTTCCATCC

Gene level identifier:

g.12515_12527delACAGGTTCCATCC

Reference, alternative allele:

CACAGGTTCCATCC, C

Genomic location hg(0)

19:36221434 (not available on ExAC)

Gene name:

KMT2B

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).