Mutation details:

Protein level identifier (NP_060575):

p.Lys70Valfs*15

cDNA level identifier (NM_018105):

c.208_209delAA

Gene level identifier:

g.4081_4082delAA

Reference, alternative allele:

CTT, C

Genomic location hg(19)

8:42694389 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).