Mutation details:

Protein level identifier (NP_060575):

p. Asp191Thrfs*9

cDNA level identifier (NM_018105):

c.570delA

Gene level identifier:

g.5292_5292delA

Reference, alternative allele:

CT, C

Genomic location hg(19)

8:42693176 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).