Mutation details:

Protein level identifier (NP_060575):

p.Arg169Gln

cDNA level identifier (NM_018105):

c.506G>A

Gene level identifier:

g.5228G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42693241

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).