Mutation details:

Protein level identifier (NP_001243793):

p.Arg927Gly

cDNA level identifier (NM_001256864):

c.2779A>G

Gene level identifier:

g.163176A>G

Archive identifier/Other designation:

pArg927Gly

Reference, alternative allele:

A, G

Genomic location hg(0)

1:65877077 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).