Mutation details:

Protein level identifier (NP_001243793):

p.Thr741Thr

cDNA level identifier (NM_001256864):

c.2223A>T

Gene level identifier:

g.153658A>G

Archive identifier/Other designation:

pThr741=

Reference, alternative allele:

A, T

Genomic location hg(0)

1:65867559 (not available on ExAC)

Gene name:

DNAJC6

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

2

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).