Mutation details:

cDNA level identifier (NM_018105):

c.(71+1_72-1)_(*1288+1_?)del

Archive identifier/Other designation:

deletion of exons 2-3

Genomic location hg(19)

not available

Gene name:

THAP1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous (10 in total).