Mutation details:

Protein level identifier (NP_060575):

p.Ser130Cysfs*4

cDNA level identifier (NM_018105):

c.389_390delCA

Gene level identifier:

g.5111_5112delCA

Reference, alternative allele:

CTG, C

Genomic location hg(19)

8:42693356 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).