Mutation details:

Protein level identifier (NP_060575):

p.Lys158Asnfs*23

cDNA level identifier (NM_018105):

c.474delA

Gene level identifier:

g.5196delA

Reference, alternative allele:

GT, G

Genomic location hg(19)

8:42693273 (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:

3 heterozygous (3 in total).