Mutation details:

Protein level identifier (NP_060575):

p.Ile116Metfs*4

cDNA level identifier (NM_018105):

c.348delT

Gene level identifier:

g.5070delT

Reference, alternative allele:

AA, A

Genomic location hg(19)

8:42693399 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).