Mutation details:

cDNA level identifier:

c.1-17822_*321+147082del

Genome level identifier:

g.1-17822_20859+147082del

Reference, alternative allele:

A+185761, A

Genetic location (hg19):

chr19:36191099 (not available on ExAC)

Gene name:

KMT2B

Consequence:

unknown effect

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

null; allele

Number of all included cases:

1 heterozygous (1 in total).

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