Mutation details:

Protein level identifier:

p.Ala1563Aspfs*83

cDNA level identifier:

c.4688del

Genome level identifier:

g.10966_10966delC

Reference, alternative allele:

GC, G

Genetic location (hg19):

chr19:36219885 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

23

Positive functional evidence:

null; allele

Number of all included cases:

1 heterozygous (1 in total).

×