Mutation details:

Protein level identifier (NP_060575):

p.Met1?

cDNA level identifier (NM_018105):

c.2delT

Gene level identifier:

g.233delT

Reference, alternative allele:

CA, C

Genomic location hg(19)

8:42698235 (not available on ExAC)

Gene name:

THAP1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).