Mutation details:

Protein level identifier (NP_060575):

p.Phe22Thrfs*50

cDNA level identifier (NM_018105):

c.63_66delTTTC

Gene level identifier:

g.294_297delTTTC

Reference, alternative allele:

GGAAA, G

Genomic location hg(19)

8:42698171 (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).