Mutation details:

Protein level identifier (NP_055542):

p.Arg1003Gln

cDNA level identifier (NM_014727):

c.3008G>A

Gene level identifier:

g.5434G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

19:36214354 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).