Mutation details:

cDNA level identifier (NM_001256864):

c.801-2A>G

Gene level identifier:

g.137492A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

1:165851393 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).