Mutation details:

Protein level identifier (NP_060575):

p.Cys5Trp

cDNA level identifier (NM_018105):

c.15C>G

Gene level identifier:

g.246C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

8:42698223 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).