Mutation details:

Protein level identifier (NP_060575):

p.Lys89Arg

cDNA level identifier (NM_018105):

c.266A>G

Gene level identifier:

g.4139A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42694330 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).