Mutation details:

Protein level identifier (NP_055542):

p.Tyr1587*

cDNA level identifier (NM_014727):

c.4760_4761dupA

Gene level identifier:

g.11038_11039insA

Reference, alternative allele:

A, AA

Genomic location hg(0)

19:36219958 (not available on ExAC)

Gene name:

KMT2B

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).