Mutation details:

Protein level identifier:

p. Gln791*

cDNA level identifier:

c.2371C>T

Genome level identifier:

g.157795C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr1:65871696 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

nonsense

Pathogenicity scoring:

probably pathogenic

CADD score:

41

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).

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