Mutation details:

Protein level identifier:

p.Tyr1515*

cDNA level identifier:

c.4545C>A

Genome level identifier:

g.10126C>A

Reference, alternative allele:

C, A

Genetic location (hg19):

chr19:36219046 (not available on ExAC)

Gene name:

KMT2B

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

39

Positive functional evidence:

null; allele

Number of all included cases:

1 heterozygous (1 in total).

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