Mutation details:

Protein level identifier (NP_055542):

p.Val2172Alafs*11

cDNA level identifier (NM_014727):

c.6515_6518delinsCCCAA

Gene level identifier:

g.15045_15048delinsCCCAA

Reference, alternative allele:

TCCG, CCCAA

Genomic location hg(0)

19:36223965 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).