Mutation details:

Protein level identifier (NP_060575):

p.Ala166Thr

cDNA level identifier (NM_018105):

c.496G>A

Gene level identifier:

g.5218G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42693251

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).