Mutation details:

cDNA level identifier (NM_018105):

c.71+9C>A

Gene level identifier:

g.311C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

8:42698158

Gene name:

THAP1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

11

Phosphorylation activity:

Positive functional evidence:

24936516;

Number of all included cases:

24 heterozygous (24 in total).