Mutation details:

Protein level identifier (NP_055542):

p.Leu1190Serfs*162

cDNA level identifier (NM_014727):

c.3568_3577delCTGAGTGTGC

Gene level identifier:

g.7240_7249delCTGAGTGTGC

Reference, alternative allele:

CCTGAGTGTGC, C

Genomic location hg(0)

19:36216159 (not available on ExAC)

Gene name:

KMT2B

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

30935829;

Number of all included cases:

1 heterozygous (1 in total).

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