Mutation details:

Protein level identifier (NP_060575):

p.Arg13His

cDNA level identifier (NM_018105):

c.38G>A

Gene level identifier:

g.269G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42698200 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

20976771; 21847143; 25088175;

Number of all included cases:

2 heterozygous (2 in total).