Mutation details:

Protein level identifier (NP_060575):

p.Phe81Leu

cDNA level identifier (NM_018105):

c.241T>C

Gene level identifier:

g.4114T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42694355 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

19182804; 20865765;

Number of all included cases:

4 heterozygous (4 in total).