Mutation details:

Protein level identifier (NP_055542):

p.Tyr1515*

cDNA level identifier (NM_014727):

c.4545C>A

Gene level identifier:

g.10126C>A

Reference, alternative allele:

C, A

Genomic location hg(0)

19:36219046 (not available on ExAC)

Gene name:

KMT2B

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).