Mutation details:

Protein level identifier (NP_060575):

p.Lys24Serfs*49

cDNA level identifier (NM_018105):

c.71_71+9delAGTGAGGACC

Gene level identifier:

g.302_309delAGTGAGGACC

Reference, alternative allele:

GGGTCCTCACT, G

Genomic location hg(19)

8:42698157 (not available on ExAC)

Gene name:

THAP1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).