Mutation details:

Protein level identifier (NP_060575):

p.Phe58Ser

cDNA level identifier (NM_018105):

c.173T>C

Gene level identifier:

g.4046T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42694423 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).