Mutation details:

Protein level identifier:

p.Tyr2688Thrfs*50

cDNA level identifier:

c.8061del

Genome level identifier:

g.20451_20451delC

Reference, alternative allele:

CC, C

Genetic location (hg19):

chr19:36229370 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

probably pathogenic

CADD score:

35

Positive functional evidence:

null; allele

Number of all included cases:

1 heterozygous (1 in total).

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