Mutation details:

Protein level identifier (NP_060575):

p.Arg29Gln

cDNA level identifier (NM_018105):

c.86G>A

Gene level identifier:

g.3959G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42694510

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

21425335; 25088175;

Number of all included cases:

4 heterozygous (4 in total).