Mutation details:

Protein level identifier (NP_055542):

p.Arg545*

cDNA level identifier (NM_014727):

c.1633C>T

Gene level identifier:

g.2962C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

19:36211882 (not available on ExAC)

Gene name:

KMT2B

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).