Mutation details:

Protein level identifier (NP_060575):

p.Arg29*

cDNA level identifier (NM_018105):

c.85C>T

Gene level identifier:

g.3958C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42694511 (not available on ExAC)

Gene name:

THAP1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

21495072;

Number of all included cases:

4 heterozygous (4 in total).