Mutation details:

Protein level identifier (NP_055542):

P.Ser104Valfs*63

cDNA level identifier (NM_014727):

c.309delG

Gene level identifier:

g.309delG

Reference, alternative allele:

CG, C

Genomic location hg(0)

19:36209229 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).