Mutation details:

Protein level identifier (NP_060575):

p.Leu177Pro

cDNA level identifier (NM_018105):

c.530T>C

Gene level identifier:

g.5252T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42693217 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).