Mutation details:

cDNA level identifier (NM_014727):

c.1-600256_*321+3730del

Gene level identifier:

g.1-600256_20859+3730del

Archive identifier/Other designation:

0.63 mb deletion, hg18: 40,300,506–40,925,348

Reference, alternative allele:

A+624843, A

Genomic location hg(0)

19:35608665 (not available on ExAC)

Gene name:

KMT2B

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).