Mutation details:

Protein level identifier:

p.Ser1656del

cDNA level identifier:

c.4966_4968del

Genome level identifier:

g.11996_11998delTCC

Reference, alternative allele:

GTCC, G

Genetic location (hg19):

chr19:36220915 (not available on ExAC)

Gene name:

KMT2B

Consequence:

in frame indel

Pathogenicity scoring:

probably pathogenic

CADD score:

21

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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