Mutation details:

Protein level identifier (NP_060575):

p.Pro19Pro

cDNA level identifier (NM_018105):

c.57C>T

Gene level identifier:

g.288C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42698181

Gene name:

THAP1

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).