Mutation details:

Protein level identifier (NP_060575):

p.Ile80Val

cDNA level identifier (NM_018105):

c.238A>G

Gene level identifier:

g.4111A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42694358

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

5

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).