Mutation details:

Protein level identifier (NP_055542):

p.Leu1753Pro

cDNA level identifier (NM_014727):

c.5258T>C

Gene level identifier:

g.12579T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

19:36221499 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).