Mutation details:

Protein level identifier (NP_060575):

p.Glu66Valfs*19

cDNA level identifier (NM_018105):

c.197_198delAG

Gene level identifier:

g.4070_4071delAG

Reference, alternative allele:

ACT, A

Genomic location hg(19)

8:42694397 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).