Mutation details:

Protein level identifier (NP_001243793):

p.Gln789*

cDNA level identifier (NM_001256864):

c.2365C>T

Gene level identifier:

g.157789C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

1:65871690 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).