Mutation details:

Protein level identifier (NP_060575):

P.Ser21Thr

cDNA level identifier (NM_018105):

c.61T>A

Gene level identifier:

g.292T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

8:42698177 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

19

Phosphorylation activity:

Positive functional evidence:

20865765;

Number of all included cases:

1 heterozygous (1 in total).