Mutation details:

Protein level identifier (NP_060575):

p.Phe132Ser

cDNA level identifier (NM_018105):

c.395T>C

Gene level identifier:

g.5117T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42693352

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).