Mutation details:

Protein level identifier:

p.Gln810*

cDNA level identifier:

c.2428C>T

Genome level identifier:

g.3757C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr19:36212677 (not available on ExAC)

Gene name:

KMT2B

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

37

Positive functional evidence:

null; allele

Number of all included cases:

3 heterozygous (3 in total).

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