Mutation details:

cDNA level identifier (NM_018105):

c.-42C>T

Gene level identifier:

g.190C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42698279

Gene name:

THAP1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

14

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).