Mutation details:

Protein level identifier (NP_055542):

p.Phe2321Serfs*93

cDNA level identifier (NM_014727):

c.7050-2A>G

Gene level identifier:

g.15742A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

19:36224662 (not available on ExAC)

Gene name:

KMT2B

Consequence:

splice site

Pathogenicity scoring:

Definitely pathogenic

CADD score:

17

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).