Mutation details:

Protein level identifier (NP_060575):

p.Ser6Phe

cDNA level identifier (NM_018105):

c.17C>T

Gene level identifier:

g.248C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42698221 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

21425335; 25088175;

Number of all included cases:

1 heterozygous (1 in total).