Mutation details:

Protein level identifier (NP_060575):

p.His23Pro

cDNA level identifier (NM_018105):

c.68A>C

Gene level identifier:

g.299A>C

Reference, alternative allele:

T, G

Genomic location hg(19)

8:42698170 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

20976771; 21425335; 21847143;

Number of all included cases:

1 heterozygous (1 in total).