Mutation details:

cDNA level identifier:

c.1-1511182_*321+854732del

Genome level identifier:

g.1-1511182_20859+854732del

Reference, alternative allele:

T+2386771, T

Genetic location (hg19):

chr19:34697739 (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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