Mutation details:

Protein level identifier (NP_060575):

p.Glu174Gly

cDNA level identifier (NM_018105):

c.521A>G

Gene level identifier:

g.5243A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42693226

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).