Mutation details:

Protein level identifier:

p.Arg1779Gln

cDNA level identifier:

c.5336G>A

Genome level identifier:

g.12747G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr19:36221667

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

30

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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