Mutation details:

Protein level identifier (NP_060575):

p.Val131Phefs*3

cDNA level identifier (NM_018105):

c.388_389delTC

Gene level identifier:

g.5110_5111delTC

Reference, alternative allele:

TGA, T

Genomic location hg(19)

8:42693357 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).