Mutation details:

Protein level identifier (NP_060575):

p.Pro126ArgFs*2

cDNA level identifier (NM_018105):

c.377_378delCT

Gene level identifier:

g.5099_5100delCT

Reference, alternative allele:

CAG, C

Genomic location hg(19)

8:42693368 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).