Mutation details:

Protein level identifier (NP_060575):

p.Cys54Tyr

cDNA level identifier (NM_018105):

c.161G>A

Gene level identifier:

g.4034G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42694435 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

20865765;

Number of all included cases:

1 heterozygous (1 in total).