Mutation details:

Protein level identifier (NP_060575):

p.Ser51Arg

cDNA level identifier (NM_018105):

c.153C>G

Gene level identifier:

g.4026C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

8:42694443 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).