Mutation details:

Protein level identifier (NP_060575):

p.Asn136Ser

cDNA level identifier (NM_018105):

c.407A>G

Gene level identifier:

g.5129A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42693340

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

28486698;

Number of all included cases:

1 heterozygous (1 in total).