Mutation details:

Protein level identifier:

p.Arg2517Trp

cDNA level identifier:

c.7549C>T

Genome level identifier:

g.19243C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr19:36228163 (not available on ExAC)

Gene name:

KMT2B

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

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