Mutation details:

Protein level identifier:

p.Phe45Leufs29*

cDNA level identifier:

c.134_135insGGGTT; c.137_139delAAC

Genome level identifier:

g.4007_4008insGGGTT; g.4010_4012delAAC

Reference, alternative allele:

GGTTTA, GTAAACCC

Genetic location (hg19):

chr8:42694456 (not available on ExAC)

Gene name:

THAP1

Consequence:

frameshift

Pathogenicity scoring:

definitely pathogenic

CADD score:

35

Positive functional evidence:

null; allele

Number of all included cases:

70 heterozygous (70 in total).

×