Mutation details:

Protein level identifier (NP_060575):

p.Ser4Phe

cDNA level identifier (NM_018105):

c.11C>T

Gene level identifier:

g.242C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42698227 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).