Mutation details:

Protein level identifier (NP_060575):

p.Phe45Leufs29*

cDNA level identifier (NM_018105):

c.134_135insGGGTT; c.137_139delAAC

Gene level identifier:

g.4007_4008insGGGTT; g.4010_4012delAAC

Reference, alternative allele:

GGTTTA, GTAAACCC

Genomic location hg(19)

8:42694456 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

35 heterozygous (35 in total).