Mutation details:

Protein level identifier (NP_055542):

p.Ala2648Val

cDNA level identifier (NM_014727):

c.7943C>T

Gene level identifier:

g.20333C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

19:36229253 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).